ATTACHMENT A - Genetic Test Requests.xlsx

XLSX spreadsheet 144 KB Posted

Attached to
Amendment for RFP 36C10X24R0051 -P00001 | Germline PGx Services Federal contract opportunity
Solicitation number
36C10X24R0051
Issued by
Department of Veterans Affairs Strategic Acquisition Center Frederick

About this file

This document appears to be an attachment titled "ATTACHMENT A - Genetic Test Requests.xlsx" related to a federal contract opportunity solicitation for the Department of Veterans Affairs (VA) National Oncology Program Germline / Pharmacogenomics Molecular Testing IDIQ contract.

The attachment provides a comprehensive list of over 300 genetic test panel options across various testing categories, including oncology, medical genetics, and pharmacogenetics. For each genetic test, details are provided on the panel name, gene composition, turnaround times, testing platform, pricing, and analytical performance metrics. The tests are designated as either "Required" or "Preferred" by the VA. This attachment appears to be a detailed list of the specific genetic testing services the VA is seeking through the referenced solicitation.

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Other files for this federal contract opportunity

Other files attached to Amendment for RFP 36C10X24R0051 -P00001 | Germline PGx Services, newest first.
File Type Posted
RFP 36C10X24R0051 0001.pdf PDF
ATTACHMENT D - Subcontracting Plan.docx DOCX document
ATTACHMENT B - PAST PERFORMANCE QUESTIONNAIRE.docx DOCX document
Germline-RFP 36C10X24R0051_Final.docx DOCX document
ATTACHMENT C- RFP Questions.xlsx XLSX spreadsheet
36C10X24R0051_2.docx DOCX document

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Text version

Requested Test (RT) FY 24

Requested Test Panel/Test Name (VA provided)Genetic testing category (VA provided)Required/Preferred (VA Provided)Vendor panel name (Vendor provided)Vendor gene panel composition (Vendor provided; include alleles tested if applicable)Expected routine turnaround time (Vendor provided)Expected STAT turnaroud time, if applicable (Vendor provided)Testing platform (i.e. sequencing, array, PCR) (Vendor provided)Price per test (Vendor provided)Analytic specificity (Vendor provided)Analytic sensitivity (Vendor provided)Positive Predictive Value (Vendor provided)Limit of Detection (Vendor provided)
RNAOncology/Medical GeneticsPreferred$0.00
Agammaglobulinemia panelMedical GeneticsPreferred$0.00
Alpha Thalassemia PanelMedical GeneticsRequired$0.00
Alpha-1 Antitrypsin DeficiencyMedical GeneticsRequired$0.00
Alport Syndrome PanelMedical GeneticsRequired$0.00
ALS PanelMedical GeneticsRequired$0.00
Alzheimer Disease, Familial, PanelMedical GeneticsRequired$0.00
Arrhythmia PanelMedical GeneticsRequired$0.00
Ataxia NGS panelMedical GeneticsRequired$0.00
Ataxia Repeat Expansion PanelMedical GeneticsRequired$0.00
ATXN3, Machado-Joseph Disease/Spinocerebellar Ataxia Type 3Medical GeneticsRequired$0.00
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) PanelMedical GeneticsRequired$0.00
Autosomal Dominant Polycystic Kidney Disease (ADPKD) PanelMedical GeneticsRequired$0.00
Autosomal Recessive Polycystic Kidney Disease (ARPKD) PanelMedical GeneticsRequired$0.00
Bartter syndrome NGS panelMedical GeneticsRequired$0.00
Beta-Thalassemia and Hemoglobinopathy via the HBB GeneMedical GeneticsRequired$0.00
Birt-Hogg-Dube Syndrome via the FLCN GeneOncologyRequired$0.00
Bone Fragility and Fracture PanelMedical GeneticsRequired$0.00
BRAF-Related Disorders via the BRAF GeneOncologyRequired$0.00
Breast Cancer PanelsOncologyRequired$0.00
Breast/Gyn Cancer PanelOncologyRequired$0.00
Brugada Syndrome PanelMedical GeneticsRequired$0.00
C9orf72 GeneMedical GeneticsRequired$0.00
CADASILMedical GeneticsRequired$0.00
CAKUT NextGen Sequencing PanelMedical GeneticsRequired$0.00
Cancer PanelOncologyRequired$0.00
Cardiomyopathy PanelMedical GeneticsRequired$0.00
Carnitine Palmitoyltransferase II Deficiency via the CPT2 GeneMedical GeneticsRequired$0.00
Carrier ScreenMedical GeneticsRequired$0.00
Catecholaminergic Polymorphic Ventricular Tachycardia PanelMedical GeneticsRequired$0.00
Cerebral Cavernous Malformations PanelMedical GeneticsRequired$0.00
Cerebral Small Vessel Disease PanelMedical GeneticsRequired$0.00
Charcot-Marie Tooth PanelMedical GeneticsRequired$0.00
Cholestasis PanelMedical GeneticsRequired$0.00
Chronic Pancreatitis PanelMedical GeneticsRequired$0.00
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) PanelMedical GeneticsRequired$0.00
Chronic/Cutaneous Porphyria PanelMedical GeneticsRequired$0.00
Classic Amyotrophic Lateral Sclerosis Seq Panel w/CNVMedical GeneticsRequired$0.00
Coagulation Factor Deficiency PanelMedical GeneticsRequired$0.00
Colorectal Cancer PanelOncologyRequired$0.00
Common Hereditary CancersOncologyRequired$0.00
Common Variable Immune Deficiency (CVID) PanelMedical GeneticsRequired$0.00
Comparative Genomic Hybridization ArrayMedical GeneticsRequired$0.00
Comprehensive Cardiac Arrhythmia PanelMedical GeneticsRequired$0.00
Comprehensive Cardiac PanelMedical GeneticsRequired$0.00
Comprehensive Epilepsy and Seizure PanelMedical GeneticsRequired$0.00
Comprehensive Inherited Kidney Diseases PanelMedical GeneticsRequired$0.00
Comprehensive Inherited Retinal Dystrophies PanelMedical GeneticsRequired$0.00
Comprehensive Metabolic PanelMedical GeneticsRequired$0.00
Comprehensive Movement Disorders PanelMedical GeneticsRequired$0.00
Comprehensive Neuromuscular PanelMedical GeneticsRequired$0.00
Comprehensive Neuropathy PanelMedical GeneticsRequired$0.00
Comprehensive Ocular Disorders PanelMedical GeneticsRequired$0.00
Cone-Rod Dystrophy PanelMedical GeneticsRequired$0.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) PanelMedical GeneticsRequired$0.00
Congenital Adrenal Hyperplasia (CAH)Medical GeneticsRequired$0.00
Congenital Hypothyroidism and Thyroid Hormone Resistance PanelMedical GeneticsRequired$0.00
Connective Tissue Disorders PanelMedical GeneticsRequired$0.00
Connective tissue panel/aortopathiesMedical GeneticsRequired$0.00
Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 GeneMedical GeneticsRequired$0.00
Custom PanelOncology/Medical GeneticsRequired$0.00
Cystic Fibrosis and CF-Related Disorders via the CFTR GeneMedical GeneticsRequired$0.00
Cystic Fibrosis PanelMedical GeneticsRequired$0.00
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A)Medical GeneticsRequired$0.00
Decreased Bone Density Panel/Osteogenesis imperfectaMedical GeneticsRequired$0.00
Dementia PanelMedical GeneticsRequired$0.00
Dentatorubral-Pallidoluysian AtrophyMedical GeneticsRequired$0.00
Dentatorubral-Pallidoluysian Atrophy (DRPLA) via the ATN1 CAG Repeat ExpansionMedical GeneticsRequired$0.00
Diamond Blackfan Anemia NGS panelMedical GeneticsPreferred$0.00
Differences of Sex Development (DSD) PanelMedical GeneticsRequired$0.00
DILATED CARDIOMYOPATHY NEXTGEN SEQUENCING (NGS) PANELMedical GeneticsRequired$0.00
Dilated Cardiomyopathy PanelMedical GeneticsRequired$0.00
Disorders of Copper Metabolism PanelMedical GeneticsRequired$0.00
Disorders of Sex Development Sequencing PanelMedical GeneticsRequired$0.00
Distal Myopathy PanelMedical GeneticsRequired$0.00
DMD - Deletion/Duplication TestingMedical GeneticsRequired$0.00
Dystonia PanelMedical GeneticsRequired$0.00
Dyskeratosis congenita NGS panelMedical GeneticsRequired$0.00
Ectodermal Dysplasia PanelMedical GeneticsRequired$0.00
Ehlers-Danlos Syndromes (EDS) PanelMedical GeneticsRequired$0.00
Epidermolysis Bullosa (EBS) and Related Disorders PanelMedical GeneticsRequired$0.00
Epilepsy and Seizure PanelMedical GeneticsRequired$0.00
Episodic Ataxia PanelMedical GeneticsRequired$0.00
Erythrocytosis NGS panelMedical GeneticsPreferred$0.00
Expanded Carrier ScreenMedical GeneticsRequired$0.00
Fabry DiseaseMedical GeneticsRequired$0.00
Factor VII DeficiencyMedical GeneticsRequired$0.00
Familial Adenomatous TestingOncologyRequired$0.00
Familial Atrial Fibrillation Syndrome PanelMedical GeneticsRequired$0.00
Familial Chylomicronemia PanelMedical GeneticsRequired$0.00
Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood PanelMedical GeneticsRequired$0.00
Familial Hemiplegic Migraine Seq PanelMedical GeneticsRequired$0.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3)Medical GeneticsRequired$0.00
Familial Hypercholesterolemia PanelMedical GeneticsRequired$0.00
Familial Hypocalciuric HypercalecemiaMedical GeneticsRequired$0.00
Familial Mediterranean Fever (Renal Amyloidosis)Medical GeneticsRequired$0.00
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) PanelMedical GeneticsRequired$0.00
Familial Thoracic Aortic Aneurysm Sequencing PanelMedical GeneticsRequired$0.00
Familial Transthyretin AmyloidosisMedical GeneticsRequired$0.00
Fanconi Anemia PanelMedical GeneticsRequired$0.00
Female infertility NGS panelMedical GeneticsRequired$0.00
Focal Segmental GlomerulosclerosisMedical GeneticsRequired$0.00
Frontotemporal Dementia PanelMedical GeneticsRequired$0.00
Galactosemia PanelMedical GeneticsRequired$0.00
Gastric Cancer PanelOncologyRequired$0.00
Gaucher DiseaseMedical GeneticsRequired$0.00
Gene xxx - Deletion/Duplication Testing via aCGHMedical GeneticsRequired$0.00
Gene xxx - NEXTGEN SEQUENCINGCancer/Non-CancerRequired$0.00
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum (PXE)Medical GeneticsRequired$0.00
Generalized, Partial and Atypical Lipodystrophy PanelMedical GeneticsRequired$0.00
Gilbert syndromeMedical GeneticsRequired$0.00
GLUT1 Deficiency SyndromeMedical GeneticsRequired$0.00
Glycogen Storage Disease (GSD) and Disorders of Glucose Metabolism PanelMedical GeneticsRequired$0.00
Glycogen Storage Disease, Type V (McArdle Disease)Medical GeneticsRequired$0.00
Gorlin syndromeMedical GeneticsRequired$0.00
GSD Type VMedical GeneticsRequired$0.00
Hereditary Breast & Ovarian Cancer TestingOncologyRequired$0.00
Hereditary Cystic Kidney Diseases PanelMedical GeneticsRequired$0.00
Hereditary Diffuse Gastric CancerOncologyRequired$0.00
Hereditary Hearing Loss and Deafness PanelMedical GeneticsRequired$0.00
Hereditary Hemorrhagic TelangiectasiaMedical GeneticsRequired$0.00
Hereditary Leiomyomatosis and Renal Cell Cancer or Fumarase DeficiencyOncology/Medical GeneticsRequired$0.00
Hereditary Neuropathy PanelMedical GeneticsRequired$0.00
Hereditary Ovarian Cancer PanelOncologyRequired$0.00
Hereditary Paraganglioma-PheochromocytomaMedical GeneticsRequired$0.00
Hereditary Polyposis PanelOncologyRequired$0.00
Hereditary Sensory and Autonomic Neuropathy PanelMedical GeneticsRequired$0.00
Hereditary XerocytosisMedical GeneticsRequired$0.00
Holt-Oram syndromeMedical GeneticsPreferred$0.00
Huntington DiseaseMedical GeneticsRequired$0.00
Hypokalemic & Hyperkalemic periodic paralysis NGS panelMedical GeneticsRequired$0.00
Hyper IgE Syndrome PanelMedical GeneticsRequired$0.00
Hyperammonemia PanelMedical GeneticsRequired$0.00
Hyperparathyroidism PanelMedical GeneticsRequired$0.00
HYPERTROPHIC CARDIOMYOPATHY NEXTGEN SEQUENCING (NGS) PANELMedical GeneticsRequired$0.00
Hypertrophic Cardiomyopathy PanelMedical GeneticsRequired$0.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome PanelMedical GeneticsRequired$0.00
Hypomagnesemia PanelMedical GeneticsRequired$0.00
Hypoparathyroidism PanelMedical GeneticsRequired$0.00
HypophosphatasiaMedical GeneticsRequired$0.00
Hypothyroidism & resistance to thyroid hormone NGS panelMedical GeneticsRequired$0.00
Hypophosphatasia& Inhereited Hypophosphatemic Rickets PanelMedical GeneticsRequired$0.00
Ichthyosis panelMedical GeneticsRequired$0.00
Idiopathic Basal Ganglia Calcification PanelMedical GeneticsRequired$0.00
Inflammatory bowel disease NGS panelMedical GeneticsPreferred$0.00
Inborn Errors of Immunity/Primary Immunodeficiency (PID) PanelMedical GeneticsRequired$0.00
Inherited Alzheimer diseaseMedical GeneticsRequired$0.00
INHERITED BONE MARROW FAILURE PANELMedical GeneticsRequired$0.00
Interstitial Lung Disease PanelMedical GeneticsRequired$0.00
Iron-Refractory Iron Deficiency Anemia (IRIDA)Medical GeneticsRequired$0.00
Isolated Polycystic Liver Disease (PCLD) PanelMedical GeneticsRequired$0.00
Isolated Polycystic Liver Disease (PCLD) PanelMedical GeneticsRequired$0.00
Junctional Epidermolysis BullosaMedical GeneticsRequired$0.00
Juvenile Hereditary HemochromatosisMedical GeneticsRequired$0.00
Kallmann Syndrome (KS) PanelMedical GeneticsRequired$0.00
LaminopathiesMedical GeneticsRequired$0.00
Leber Hereditary Optic Neuropathy (LHON) Common VariantsMedical GeneticsRequired$0.00
Leukodystrophy and Leukoencephalopathy PanelMedical GeneticsRequired$0.00
Leukodystrophy and Leukoencephalopathy, Adult Onset PanelMedical GeneticsRequired$0.00
Li-Fraumeni SyndromeOncologyRequired$0.00
Limb Girdle Muscular Dystrophy PanelMedical GeneticsRequired$0.00
Long QT PanelMedical GeneticsRequired$0.00
Lynch Syndrome PanelOncologyRequired$0.00
Machado-Joseph Disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) via the ATXN3 CAG Repeat ExpansionMedical GeneticsRequired$0.00
Macular Dystrophies PanelMedical GeneticsRequired$0.00
Malignant HyperthermiaMedical GeneticsRequired$0.00
MARFAN SYNDROME AND RELATED AORTOPATHIES NEXTGEN PANELMedical GeneticsRequired$0.00
Marfan Syndrome and Related Aortopathies PanelMedical GeneticsRequired$0.00
Marfan Syndrome and Related Aortopathies Panel (Exome)Medical GeneticsRequired$0.00
Maturity Onset Diabetes of the YoungMedical GeneticsRequired$0.00
Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin SyndromeMedical GeneticsRequired$0.00
Melanoma PanelOncologyRequired$0.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance PanelMedical GeneticsRequired$0.00
Metachromatic LeukodystrophyMedical GeneticsRequired$0.00
Mitochondrial Disorders Panel (Nuclear Genes Only)Medical GeneticsRequired$0.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes PanelMedical GeneticsRequired$0.00
Mitochondrial Genome SequencingMedical GeneticsRequired$0.00
Mitochondrial Oxidative Phosphorylation Deficiency SeqMedical GeneticsRequired$0.00
Mitochondrial PanelMedical GeneticsRequired$0.00
Monogenic Diabetes PanelMedical GeneticsRequired$0.00
Mucopolysaccharidosis NGS panelMedical GeneticsRequired$0.00
Multicancer PanelOncologyRequired$0.00
Multiple Endocrine Neoplasia Type 1OncologyRequired$0.00
Multiple Endocrine Neoplasia Type 2A (MEN2A), Type 2B (MEN2B), and Familial Medullary Thyroid Carcinoma (FMTC)OncologyRequired$0.00
Multiple Endocrine Neoplasia Type 4OncologyRequired$0.00
Muscular Dystrophy PanelMedical GeneticsRequired$0.00
MUTYH Associated Polyposis (MAP) SyndromeOncologyRequired$0.00
Myopathy panelMedical GeneticsRequired$0.00
Myotonic Dystrophy Type 1Medical GeneticsRequired$0.00
Myotonic Dystrophy Type 2Medical GeneticsRequired$0.00
Nail-Patella SyndromeMedical GeneticsRequired$0.00
Nephrolithiasis and Nephrocalcinosis PanelMedical GeneticsRequired$0.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) PanelMedical GeneticsRequired$0.00
Neurofibromatosis Type 1Medical GeneticsRequired$0.00
Neurofibromatosis Type 2Medical GeneticsRequired$0.00
Neuromuscular NGS panelMedical GeneticsRequired$0.00
Noonan & Rasopathies panelMedical GeneticsRequired$0.00
NGSmtDNALR1 PanelMedical GeneticsRequired$0.00
NGSmtDNALR2 PanelMedical GeneticsRequired$0.00
OI NGS panelMedical GeneticsRequired$0.00
Oculopharyngeal Muscular DystrophyMedical GeneticsRequired$0.00
Optic Atrophy PanelMedical GeneticsRequired$0.00
Pan Cardiomyopathy PanelMedical GeneticsRequired$0.00
Pancreatic Cancer PanelOncologyRequired$0.00
Pancreatitis PanelMedical GeneticsRequired$0.00
Paraganglioma/Pheochromocytoma PanelMedical GeneticsRequired$0.00
Parkinson Disease and Parkinsonism PanelMedical GeneticsRequired$0.00
Parkinson Disease PanelMedical GeneticsRequired$0.00
Parkinson-Alzheimer-Dementia NGS panelMedical GeneticsPreferred$0.00
PCD/Immotile Cilia Syndrome and Cystic PanelMedical GeneticsRequired$0.00
Periodic Fever Syndromes PanelMedical GeneticsRequired$0.00
Peutz-Jeghers SyndromeMedical GeneticsRequired$0.00
Pharmacogenetic focussed panelPGXRequired$0.00
PMP22-Related NeuropathiesMedical GeneticsRequired$0.00
Polycystic Kidney Disease PanelMedical GeneticsRequired$0.00
Polyposis PanelOncologyRequired$0.00
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic PorphyriaMedical GeneticsRequired$0.00
Porphyria PanelMedical GeneticsRequired$0.00
Premature Ovarian Failure (POF) PanelMedical GeneticsRequired$0.00
Primary Aldosteronism PanelMedical GeneticsRequired$0.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome PanelMedical GeneticsRequired$0.00
Primary ImmunodeficiencesMedical GeneticsRequired$0.00
Primary Periodic Paralysis PanelMedical GeneticsRequired$0.00
Prostate Cancer PanelOncologyRequired$0.00
Protein C DeficiencyMedical GeneticsRequired$0.00
Protein S DeficiencyMedical GeneticsRequired$0.00
PTEN Hamartoma Tumor SyndromeOncologyRequired$0.00
PTPN11-Related DisordersMedical GeneticsRequired$0.00
Pulmonary HypertensionMedical GeneticsRequired$0.00
Pure Hereditary Spastic Paraplegia PanelMedical GeneticsRequired$0.00
Renal Cancer PanelOncologyRequired$0.00
Renal/Urinary Tract Cancer PanelOncologyRequired$0.00
Retinitis Pigementosa PanelMedical GeneticsRequired$0.00
Rhabdomyolysis PanelMedical GeneticsRequired$0.00
RYR1-Related Congenital MyopathiesMedical GeneticsRequired$0.00
Schwannomatosis PanelMedical GeneticsRequired$0.00
Single GeneCancer/Non-CancerRequired$0.00
Skin Fibroblast CultureALLRequired$0.00
Spastic ParaplegiaMedical GeneticsRequired$0.00
Spinal Bulbar Muscular AtrophyMedical GeneticsRequired$0.00
Spinocerebellar Ataxia Type 17Medical GeneticsRequired$0.00
Spinocerebellar Ataxia Type 2Medical GeneticsRequired$0.00
Stargardt Disease (STGD) and Macular Dystrophies PanelMedical GeneticsRequired$0.00
Steroid-Resistant Nephrotic SyndromeMedical GeneticsRequired$0.00
STGD and Macular Dystrophies NGS PanelMedical GeneticsRequired$0.00
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine PanelMedical GeneticsRequired$0.00
Sudden Cardiac Arrest PanelMedical GeneticsRequired$0.00
Systemic Primary Carnitine DeficiencyMedical GeneticsRequired$0.00
Thrombocytopenia Panel - ExpandedMedical GeneticsRequired$0.00
Thrombotic disorders NGS panelMedical GeneticsRequired$0.00
TNXB-Related DisordersMedical GeneticsRequired$0.00
Tuberous Sclerosis Complex (TSC) Deletion/Duplication TestingCancer/Non-CancerRequired$0.00
Tuberous Sclerosis Complex (TSC) PanelCancer/Non-CancerRequired$0.00
Tumor Predisposition Syndrome, Uveal Melanoma and MesotheliomaOncologyRequired$0.00
Urea Cycle Disorders PanelMedical GeneticsRequired$0.00
Usher syndrome NGS panelMedical GeneticsRequired$0.00
Von Hippel-Lindau DiseaseMedical GeneticsRequired$0.00
von Willebrand Disease Types 1, 2, and 3Medical GeneticsRequired$0.00
Whole Exome Sequencing (proband)Medical GeneticsRequired$0.00
Whole Exome Sequencing (duo/trio)Medical GeneticsRequired$0.00
Whole Genome Sequencing (proband)Medical GeneticsRequired$0.00
Whole Genome Sequencing (duo/trio)Medical GeneticsRequired$0.00
Whole-Genome Chromosomal Microarray (CMA-ISCA)Medical GeneticsRequired$0.00
Wilson Disease / Hepatolenticular DegenerationMedical GeneticsRequired$0.00
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia PanelMedical GeneticsRequired$0.00
X-linked Spinal and Bulbar Muscular Atrophy (Kennedy Disease) via the AR Gene CAG Repeat ExpansionMedical GeneticsRequired$0.00
AceruloplasminemiaMedical GeneticsPreferred$0.00
Aceruloplasminemia via the CP GeneMedical GeneticsPreferred$0.00
Acute hepatic porphyriaMedical GeneticsPreferred$0.00
Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) GeneMedical GeneticsPreferred$0.00
Antithrombin Deficiency via the SERPINC1 GeneMedical GeneticsPreferred$0.00
APC - Single Exon SequencingOncologyPreferred$0.00
Autism Spectrum Disorders (ASD) PanelMedical GeneticsPreferred$0.00
Carney Complex (CNC) via the PRKAR1A GeneMedical GeneticsPreferred$0.00
Comprehensive Congenital Heart Disease PanelMedical GeneticsPreferred$0.00
Congenital Fibrinogen Deficiency PanelMedical GeneticsPreferred$0.00
Congenital Myasthenic Syndrome PanelMedical GeneticsPreferred$0.00
Cystinosis via the CTNS GeneMedical GeneticsPreferred$0.00
DNA BankingALLPreferred$0.00
Ectodermal DysplasiaMedical GeneticsPreferred$0.00
Episodic Pain Syndrome PanelMedical GeneticsPreferred$0.00
Exome-RAPID-NonProbandMedical GeneticsPreferred$0.00
Fragile X Syndrome via the FMR1 CGG Repeat ExpansionMedical GeneticsPreferred$0.00
Repeat Expansion TestingMedical GeneticsRequired$0.00
PABPN1 Repeat ExpansionMedical GeneticsPreferred$0.00
aCGH testingMedical GeneticsRequired$0.00
Gene xxx - Single Exon SequencingOncology/Medical GeneticsPreferred$0.00
Generalized Arterial CalcificationMedical GeneticsPreferred$0.00
Glucose-6-Phosphate Dehydrogenase DeficiencyMedical GeneticsPreferred$0.00
HEMOPHILIA AMedical GeneticsPreferred$0.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) PanelMedical GeneticsPreferred$0.00
Hereditary Spastic Paraplegia PanelMedical GeneticsPreferred$0.00
Hirschsprung Disease (HSCR)Medical GeneticsPreferred$0.00
Intellectual Disability, Epilepsy, and Autism (IDEA) PanelMedical GeneticsPreferred$0.00
Lung Cancer SusceptibilityOncologyPreferred$0.00
Male Infertility PanelMedical GeneticsPreferred$0.00
Medulloblastoma/Nevoid Basal Cell CarcinomaMedical GeneticsPreferred$0.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy PanelMedical GeneticsPreferred$0.00
Neuronal Ceroid Lipofuscinosis 1Medical GeneticsPreferred$0.00
Nijmegen Breakage SyndromeMedical GeneticsPreferred$0.00
Nonsyndromic Congenital Heart Disease PanelMedical GeneticsPreferred$0.00
PABPN1 x1 SangerMedical GeneticsPreferred$0.00
Paired tumor/germlineOncologyPreferred$0.00
Peroxisomal Disorders PanelMedical GeneticsPreferred$0.00
Polygenic risk scoresCancer/Non-CancerPreferred$0.00
Primary Familial and Congenital Polycythemia (PFCP)Medical GeneticsPreferred$0.00
Severe Congenital Neutropenia and Cyclic NeutropeniaMedical GeneticsPreferred$0.00
Spherocytosis/Elliptocytosis PanelMedical GeneticsPreferred$0.00
Spinal Muscular Atrophy (SMA)Medical GeneticsPreferred$0.00
TARGETED TESTING via GENE SEQCancer/Non-CancerPreferred$0.00
Targeted Variants - Single Exon SequencingCancer/Non-CancerPreferred$0.00
Tooth Agenesis PanelMedical GeneticsPreferred$0.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related DisordersMedical GeneticsPreferred$0.00
WFS1-Related DisordersMedical GeneticsPreferred$0.00
Xeroderma Pigmentosum (XP) PanelMedical GeneticsPreferred$0.00
X-Linked AdrenoleukodystrophyMedical GeneticsPreferred$0.00
Y Chromosome Deletion AnalysisMedical GeneticsPreferred$0.00
Pharmacogenetic comprehensive panelPGXPreferred$0.00
Chromosomal microarray analysis - High resolutionMedical GeneticsRequired$0.00
Chromosomal microarray analysis - High resolution + SNPMedical GeneticsPreferred$0.00
Hematologic cancer comprehensive panelOncologyRequired$0.00
Nervous system/Brain cancer comprehensive panelOncologyRequired$0.00
Sarcoma cancer panelOncologyRequired$0.00
Thyroid cancer panelOncologyRequired$0.00

RT (FY 25)

Requested Test Panel/Test Name (VA provided)Genetic testing category (VA provided)Required/Preferred (VA Provided)Vendor panel name (Vendor provided)Vendor gene panel composition (Vendor provided; include alleles tested if applicable)Expected routine turnaround time (Vendor provided)Expected STAT turnaroud time, if applicable (Vendor provided)Testing platform (i.e. sequencing, array, PCR) (Vendor provided)Price per test (Vendor provided)Analytic specificity (Vendor provided)Analytic sensitivity (Vendor provided)Positive Predictive Value (Vendor provided)Limit of Detection (Vendor provided)
RNAOncology/Medical GeneticsPreferred$0.00
Agammaglobulinemia panelMedical GeneticsPreferred$0.00
Alpha Thalassemia PanelMedical GeneticsRequired$0.00
Alpha-1 Antitrypsin DeficiencyMedical GeneticsRequired$0.00
Alport Syndrome PanelMedical GeneticsRequired$0.00
ALS PanelMedical GeneticsRequired$0.00
Alzheimer Disease, Familial, PanelMedical GeneticsRequired$0.00
Arrhythmia PanelMedical GeneticsRequired$0.00
Ataxia NGS panelMedical GeneticsRequired$0.00
Ataxia Repeat Expansion PanelMedical GeneticsRequired$0.00
ATXN3, Machado-Joseph Disease/Spinocerebellar Ataxia Type 3Medical GeneticsRequired$0.00
Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) PanelMedical GeneticsRequired$0.00
Autosomal Dominant Polycystic Kidney Disease (ADPKD) PanelMedical GeneticsRequired$0.00
Autosomal Recessive Polycystic Kidney Disease (ARPKD) PanelMedical GeneticsRequired$0.00
Bartter syndrome NGS panelMedical GeneticsRequired$0.00
Beta-Thalassemia and Hemoglobinopathy via the HBB GeneMedical GeneticsRequired$0.00
Birt-Hogg-Dube Syndrome via the FLCN GeneOncologyRequired$0.00
Bone Fragility and Fracture PanelMedical GeneticsRequired$0.00
BRAF-Related Disorders via the BRAF GeneOncologyRequired$0.00
Breast Cancer PanelsOncologyRequired$0.00
Breast/Gyn Cancer PanelOncologyRequired$0.00
Brugada Syndrome PanelMedical GeneticsRequired$0.00
C9orf72 GeneMedical GeneticsRequired$0.00
CADASILMedical GeneticsRequired$0.00
CAKUT NextGen Sequencing PanelMedical GeneticsRequired$0.00
Cancer PanelOncologyRequired$0.00
Cardiomyopathy PanelMedical GeneticsRequired$0.00
Carnitine Palmitoyltransferase II Deficiency via the CPT2 GeneMedical GeneticsRequired$0.00
Carrier ScreenMedical GeneticsRequired$0.00
Catecholaminergic Polymorphic Ventricular Tachycardia PanelMedical GeneticsRequired$0.00
Cerebral Cavernous Malformations PanelMedical GeneticsRequired$0.00
Cerebral Small Vessel Disease PanelMedical GeneticsRequired$0.00
Charcot-Marie Tooth PanelMedical GeneticsRequired$0.00
Cholestasis PanelMedical GeneticsRequired$0.00
Chronic Pancreatitis PanelMedical GeneticsRequired$0.00
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) PanelMedical GeneticsRequired$0.00
Chronic/Cutaneous Porphyria PanelMedical GeneticsRequired$0.00
Classic Amyotrophic Lateral Sclerosis Seq Panel w/CNVMedical GeneticsRequired$0.00
Coagulation Factor Deficiency PanelMedical GeneticsRequired$0.00
Colorectal Cancer PanelOncologyRequired$0.00
Common Hereditary CancersOncologyRequired$0.00
Common Variable Immune Deficiency (CVID) PanelMedical GeneticsRequired$0.00
Comparative Genomic Hybridization ArrayMedical GeneticsRequired$0.00
Comprehensive Cardiac Arrhythmia PanelMedical GeneticsRequired$0.00
Comprehensive Cardiac PanelMedical GeneticsRequired$0.00
Comprehensive Epilepsy and Seizure PanelMedical GeneticsRequired$0.00
Comprehensive Inherited Kidney Diseases PanelMedical GeneticsRequired$0.00
Comprehensive Inherited Retinal Dystrophies PanelMedical GeneticsRequired$0.00
Comprehensive Metabolic PanelMedical GeneticsRequired$0.00
Comprehensive Movement Disorders PanelMedical GeneticsRequired$0.00
Comprehensive Neuromuscular PanelMedical GeneticsRequired$0.00
Comprehensive Neuropathy PanelMedical GeneticsRequired$0.00
Comprehensive Ocular Disorders PanelMedical GeneticsRequired$0.00
Cone-Rod Dystrophy PanelMedical GeneticsRequired$0.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) PanelMedical GeneticsRequired$0.00
Congenital Adrenal Hyperplasia (CAH)Medical GeneticsRequired$0.00
Congenital Hypothyroidism and Thyroid Hormone Resistance PanelMedical GeneticsRequired$0.00
Connective Tissue Disorders PanelMedical GeneticsRequired$0.00
Connective tissue panel/aortopathiesMedical GeneticsRequired$0.00
Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 GeneMedical GeneticsRequired$0.00
Custom PanelOncology/Medical GeneticsRequired$0.00
Cystic Fibrosis and CF-Related Disorders via the CFTR GeneMedical GeneticsRequired$0.00
Cystic Fibrosis PanelMedical GeneticsRequired$0.00
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A)Medical GeneticsRequired$0.00
Decreased Bone Density Panel/Osteogenesis imperfectaMedical GeneticsRequired$0.00
Dementia PanelMedical GeneticsRequired$0.00
Dentatorubral-Pallidoluysian AtrophyMedical GeneticsRequired$0.00
Dentatorubral-Pallidoluysian Atrophy (DRPLA) via the ATN1 CAG Repeat ExpansionMedical GeneticsRequired$0.00
Diamond Blackfan Anemia NGS panelMedical GeneticsPreferred$0.00
Differences of Sex Development (DSD) PanelMedical GeneticsRequired$0.00
DILATED CARDIOMYOPATHY NEXTGEN SEQUENCING (NGS) PANELMedical GeneticsRequired$0.00
Dilated Cardiomyopathy PanelMedical GeneticsRequired$0.00
Disorders of Copper Metabolism PanelMedical GeneticsRequired$0.00
Disorders of Sex Development Sequencing PanelMedical GeneticsRequired$0.00
Distal Myopathy PanelMedical GeneticsRequired$0.00
DMD - Deletion/Duplication TestingMedical GeneticsRequired$0.00
Dystonia PanelMedical GeneticsRequired$0.00
Dyskeratosis congenita NGS panelMedical GeneticsRequired$0.00
Ectodermal Dysplasia PanelMedical GeneticsRequired$0.00
Ehlers-Danlos Syndromes (EDS) PanelMedical GeneticsRequired$0.00
Epidermolysis Bullosa (EBS) and Related Disorders PanelMedical GeneticsRequired$0.00
Epilepsy and Seizure PanelMedical GeneticsRequired$0.00
Episodic Ataxia PanelMedical GeneticsRequired$0.00
Erythrocytosis NGS panelMedical GeneticsPreferred$0.00
Expanded Carrier ScreenMedical GeneticsRequired$0.00
Fabry DiseaseMedical GeneticsRequired$0.00
Factor VII DeficiencyMedical GeneticsRequired$0.00
Familial Adenomatous TestingOncologyRequired$0.00
Familial Atrial Fibrillation Syndrome PanelMedical GeneticsRequired$0.00
Familial Chylomicronemia PanelMedical GeneticsRequired$0.00
Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood PanelMedical GeneticsRequired$0.00
Familial Hemiplegic Migraine Seq PanelMedical GeneticsRequired$0.00
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3)Medical GeneticsRequired$0.00
Familial Hypercholesterolemia PanelMedical GeneticsRequired$0.00
Familial Hypocalciuric HypercalecemiaMedical GeneticsRequired$0.00
Familial Mediterranean Fever (Renal Amyloidosis)Medical GeneticsRequired$0.00
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) PanelMedical GeneticsRequired$0.00
Familial Thoracic Aortic Aneurysm Sequencing PanelMedical GeneticsRequired$0.00
Familial Transthyretin AmyloidosisMedical GeneticsRequired$0.00
Fanconi Anemia PanelMedical GeneticsRequired$0.00
Female infertility NGS panelMedical GeneticsRequired$0.00
Focal Segmental GlomerulosclerosisMedical GeneticsRequired$0.00
Frontotemporal Dementia PanelMedical GeneticsRequired$0.00
Galactosemia PanelMedical GeneticsRequired$0.00
Gastric Cancer PanelOncologyRequired$0.00
Gaucher DiseaseMedical GeneticsRequired$0.00
Gene xxx - Deletion/Duplication Testing via aCGHMedical GeneticsRequired$0.00
Gene xxx - NEXTGEN SEQUENCINGCancer/Non-CancerRequired$0.00
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum (PXE)Medical GeneticsRequired$0.00
Generalized, Partial and Atypical Lipodystrophy PanelMedical GeneticsRequired$0.00
Gilbert syndromeMedical GeneticsRequired$0.00
GLUT1 Deficiency SyndromeMedical GeneticsRequired$0.00
Glycogen Storage Disease (GSD) and Disorders of Glucose Metabolism PanelMedical GeneticsRequired$0.00
Glycogen Storage Disease, Type V (McArdle Disease)Medical GeneticsRequired$0.00
Gorlin syndromeMedical GeneticsRequired$0.00
GSD Type VMedical GeneticsRequired$0.00
Hereditary Breast & Ovarian Cancer TestingOncologyRequired$0.00
Hereditary Cystic Kidney Diseases PanelMedical GeneticsRequired$0.00
Hereditary Diffuse Gastric CancerOncologyRequired$0.00
Hereditary Hearing Loss and Deafness PanelMedical GeneticsRequired$0.00
Hereditary Hemorrhagic TelangiectasiaMedical GeneticsRequired$0.00
Hereditary Leiomyomatosis and Renal Cell Cancer or Fumarase DeficiencyOncology/Medical GeneticsRequired$0.00
Hereditary Neuropathy PanelMedical GeneticsRequired$0.00
Hereditary Ovarian Cancer PanelOncologyRequired$0.00
Hereditary Paraganglioma-PheochromocytomaMedical GeneticsRequired$0.00
Hereditary Polyposis PanelOncologyRequired$0.00
Hereditary Sensory and Autonomic Neuropathy PanelMedical GeneticsRequired$0.00
Hereditary XerocytosisMedical GeneticsRequired$0.00
Holt-Oram syndromeMedical GeneticsPreferred$0.00
Huntington DiseaseMedical GeneticsRequired$0.00
Hypokalemic & Hyperkalemic periodic paralysis NGS panelMedical GeneticsRequired$0.00
Hyper IgE Syndrome PanelMedical GeneticsRequired$0.00
Hyperammonemia PanelMedical GeneticsRequired$0.00
Hyperparathyroidism PanelMedical GeneticsRequired$0.00
HYPERTROPHIC CARDIOMYOPATHY NEXTGEN SEQUENCING (NGS) PANELMedical GeneticsRequired$0.00
Hypertrophic Cardiomyopathy PanelMedical GeneticsRequired$0.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome PanelMedical GeneticsRequired$0.00
Hypomagnesemia PanelMedical GeneticsRequired$0.00
Hypoparathyroidism PanelMedical GeneticsRequired$0.00
HypophosphatasiaMedical GeneticsRequired$0.00
Hypothyroidism & resistance to thyroid hormone NGS panelMedical GeneticsRequired$0.00
Hypophosphatasia& Inhereited Hypophosphatemic Rickets PanelMedical GeneticsRequired$0.00
Ichthyosis panelMedical GeneticsRequired$0.00
Idiopathic Basal Ganglia Calcification PanelMedical GeneticsRequired$0.00
Inflammatory bowel disease NGS panelMedical GeneticsPreferred$0.00
Inborn Errors of Immunity/Primary Immunodeficiency (PID) PanelMedical GeneticsRequired$0.00
Inherited Alzheimer diseaseMedical GeneticsRequired$0.00
INHERITED BONE MARROW FAILURE PANELMedical GeneticsRequired$0.00
Interstitial Lung Disease PanelMedical GeneticsRequired$0.00
Iron-Refractory Iron Deficiency Anemia (IRIDA)Medical GeneticsRequired$0.00
Isolated Polycystic Liver Disease (PCLD) PanelMedical GeneticsRequired$0.00
Isolated Polycystic Liver Disease (PCLD) PanelMedical GeneticsRequired$0.00
Junctional Epidermolysis BullosaMedical GeneticsRequired$0.00
Juvenile Hereditary HemochromatosisMedical GeneticsRequired$0.00
Kallmann Syndrome (KS) PanelMedical GeneticsRequired$0.00
LaminopathiesMedical GeneticsRequired$0.00
Leber Hereditary Optic Neuropathy (LHON) Common VariantsMedical GeneticsRequired$0.00
Leukodystrophy and Leukoencephalopathy PanelMedical GeneticsRequired$0.00
Leukodystrophy and Leukoencephalopathy, Adult Onset PanelMedical GeneticsRequired$0.00
Li-Fraumeni SyndromeOncologyRequired$0.00
Limb Girdle Muscular Dystrophy PanelMedical GeneticsRequired$0.00
Long QT PanelMedical GeneticsRequired$0.00
Lynch Syndrome PanelOncologyRequired$0.00
Machado-Joseph Disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) via the ATXN3 CAG Repeat ExpansionMedical GeneticsRequired$0.00
Macular Dystrophies PanelMedical GeneticsRequired$0.00
Malignant HyperthermiaMedical GeneticsRequired$0.00
MARFAN SYNDROME AND RELATED AORTOPATHIES NEXTGEN PANELMedical GeneticsRequired$0.00
Marfan Syndrome and Related Aortopathies PanelMedical GeneticsRequired$0.00
Marfan Syndrome and Related Aortopathies Panel (Exome)Medical GeneticsRequired$0.00
Maturity Onset Diabetes of the YoungMedical GeneticsRequired$0.00
Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin SyndromeMedical GeneticsRequired$0.00
Melanoma PanelOncologyRequired$0.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance PanelMedical GeneticsRequired$0.00
Metachromatic LeukodystrophyMedical GeneticsRequired$0.00
Mitochondrial Disorders Panel (Nuclear Genes Only)Medical GeneticsRequired$0.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes PanelMedical GeneticsRequired$0.00
Mitochondrial Genome SequencingMedical GeneticsRequired$0.00
Mitochondrial Oxidative Phosphorylation Deficiency SeqMedical GeneticsRequired$0.00
Mitochondrial PanelMedical GeneticsRequired$0.00
Monogenic Diabetes PanelMedical GeneticsRequired$0.00
Mucopolysaccharidosis NGS panelMedical GeneticsRequired$0.00
Multicancer PanelOncologyRequired$0.00
Multiple Endocrine Neoplasia Type 1OncologyRequired$0.00
Multiple Endocrine Neoplasia Type 2A (MEN2A), Type 2B (MEN2B), and Familial Medullary Thyroid Carcinoma (FMTC)OncologyRequired$0.00
Multiple Endocrine Neoplasia Type 4OncologyRequired$0.00
Muscular Dystrophy PanelMedical GeneticsRequired$0.00
MUTYH Associated Polyposis (MAP) SyndromeOncologyRequired$0.00
Myopathy panelMedical GeneticsRequired$0.00
Myotonic Dystrophy Type 1Medical GeneticsRequired$0.00
Myotonic Dystrophy Type 2Medical GeneticsRequired$0.00
Nail-Patella SyndromeMedical GeneticsRequired$0.00
Nephrolithiasis and Nephrocalcinosis PanelMedical GeneticsRequired$0.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) PanelMedical GeneticsRequired$0.00
Neurofibromatosis Type 1Medical GeneticsRequired$0.00
Neurofibromatosis Type 2Medical GeneticsRequired$0.00
Neuromuscular NGS panelMedical GeneticsRequired$0.00
Noonan & Rasopathies panelMedical GeneticsRequired$0.00
NGSmtDNALR1 PanelMedical GeneticsRequired$0.00
NGSmtDNALR2 PanelMedical GeneticsRequired$0.00
OI NGS panelMedical GeneticsRequired$0.00
Oculopharyngeal Muscular DystrophyMedical GeneticsRequired$0.00
Optic Atrophy PanelMedical GeneticsRequired$0.00
Pan Cardiomyopathy PanelMedical GeneticsRequired$0.00
Pancreatic Cancer PanelOncologyRequired$0.00
Pancreatitis PanelMedical GeneticsRequired$0.00
Paraganglioma/Pheochromocytoma PanelMedical GeneticsRequired$0.00
Parkinson Disease and Parkinsonism PanelMedical GeneticsRequired$0.00
Parkinson Disease PanelMedical GeneticsRequired$0.00
Parkinson-Alzheimer-Dementia NGS panelMedical GeneticsPreferred$0.00
PCD/Immotile Cilia Syndrome and Cystic PanelMedical GeneticsRequired$0.00
Periodic Fever Syndromes PanelMedical GeneticsRequired$0.00
Peutz-Jeghers SyndromeMedical GeneticsRequired$0.00
Pharmacogenetic focussed panelPGXRequired$0.00
PMP22-Related NeuropathiesMedical GeneticsRequired$0.00
Polycystic Kidney Disease PanelMedical GeneticsRequired$0.00
Polyposis PanelOncologyRequired$0.00
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic PorphyriaMedical GeneticsRequired$0.00
Porphyria PanelMedical GeneticsRequired$0.00
Premature Ovarian Failure (POF) PanelMedical GeneticsRequired$0.00
Primary Aldosteronism PanelMedical GeneticsRequired$0.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome PanelMedical GeneticsRequired$0.00
Primary ImmunodeficiencesMedical GeneticsRequired$0.00
Primary Periodic Paralysis PanelMedical GeneticsRequired$0.00
Prostate Cancer PanelOncologyRequired$0.00
Protein C DeficiencyMedical GeneticsRequired$0.00
Protein S DeficiencyMedical GeneticsRequired$0.00
PTEN Hamartoma Tumor SyndromeOncologyRequired$0.00
PTPN11-Related DisordersMedical GeneticsRequired$0.00
Pulmonary HypertensionMedical GeneticsRequired$0.00
Pure Hereditary Spastic Paraplegia PanelMedical GeneticsRequired$0.00
Renal Cancer PanelOncologyRequired$0.00
Renal/Urinary Tract Cancer PanelOncologyRequired$0.00
Retinitis Pigementosa PanelMedical GeneticsRequired$0.00
Rhabdomyolysis PanelMedical GeneticsRequired$0.00
RYR1-Related Congenital MyopathiesMedical GeneticsRequired$0.00
Schwannomatosis PanelMedical GeneticsRequired$0.00
Single GeneCancer/Non-CancerRequired$0.00
Skin Fibroblast CultureALLRequired$0.00
Spastic ParaplegiaMedical GeneticsRequired$0.00
Spinal Bulbar Muscular AtrophyMedical GeneticsRequired$0.00
Spinocerebellar Ataxia Type 17Medical GeneticsRequired$0.00
Spinocerebellar Ataxia Type 2Medical GeneticsRequired$0.00
Stargardt Disease (STGD) and Macular Dystrophies PanelMedical GeneticsRequired$0.00
Steroid-Resistant Nephrotic SyndromeMedical GeneticsRequired$0.00
STGD and Macular Dystrophies NGS PanelMedical GeneticsRequired$0.00
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine PanelMedical GeneticsRequired$0.00
Sudden Cardiac Arrest PanelMedical GeneticsRequired$0.00
Systemic Primary Carnitine DeficiencyMedical GeneticsRequired$0.00
Thrombocytopenia Panel - ExpandedMedical GeneticsRequired$0.00
Thrombotic disorders NGS panelMedical GeneticsRequired$0.00
TNXB-Related DisordersMedical GeneticsRequired$0.00
Tuberous Sclerosis Complex (TSC) Deletion/Duplication TestingCancer/Non-CancerRequired$0.00
Tuberous Sclerosis Complex (TSC) PanelCancer/Non-CancerRequired$0.00
Tumor Predisposition Syndrome, Uveal Melanoma and MesotheliomaOncologyRequired$0.00
Urea Cycle Disorders PanelMedical GeneticsRequired$0.00
Usher syndrome NGS panelMedical GeneticsRequired$0.00
Von Hippel-Lindau DiseaseMedical GeneticsRequired$0.00
von Willebrand Disease Types 1, 2, and 3Medical GeneticsRequired$0.00
Whole Exome Sequencing (proband)Medical GeneticsRequired$0.00
Whole Exome Sequencing (duo/trio)Medical GeneticsRequired$0.00
Whole Genome Sequencing (proband)Medical GeneticsRequired$0.00
Whole Genome Sequencing (duo/trio)Medical GeneticsRequired$0.00
Whole-Genome Chromosomal Microarray (CMA-ISCA)Medical GeneticsRequired$0.00
Wilson Disease / Hepatolenticular DegenerationMedical GeneticsRequired$0.00
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia PanelMedical GeneticsRequired$0.00
X-linked Spinal and Bulbar Muscular Atrophy (Kennedy Disease) via the AR Gene CAG Repeat ExpansionMedical GeneticsRequired$0.00
AceruloplasminemiaMedical GeneticsPreferred$0.00
Aceruloplasminemia via the CP GeneMedical GeneticsPreferred$0.00
Acute hepatic porphyriaMedical GeneticsPreferred$0.00
Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) GeneMedical GeneticsPreferred$0.00
Antithrombin Deficiency via the SERPINC1 GeneMedical GeneticsPreferred$0.00
APC - Single Exon SequencingOncologyPreferred$0.00
Autism Spectrum Disorders (ASD) PanelMedical GeneticsPreferred$0.00
Carney Complex (CNC) via the PRKAR1A GeneMedical GeneticsPreferred$0.00
Comprehensive Congenital Heart Disease PanelMedical GeneticsPreferred$0.00
Congenital Fibrinogen Deficiency PanelMedical GeneticsPreferred$0.00
Congenital Myasthenic Syndrome PanelMedical GeneticsPreferred$0.00
Cystinosis via the CTNS GeneMedical GeneticsPreferred$0.00
DNA BankingALLPreferred$0.00
Ectodermal DysplasiaMedical GeneticsPreferred$0.00
Episodic Pain Syndrome PanelMedical GeneticsPreferred$0.00
Exome-RAPID-NonProbandMedical GeneticsPreferred$0.00
Fragile X Syndrome via the FMR1 CGG Repeat ExpansionMedical GeneticsPreferred$0.00
Repeat Expansion TestingMedical GeneticsRequired$0.00
PABPN1 Repeat ExpansionMedical GeneticsPreferred$0.00
aCGH testingMedical GeneticsRequired$0.00
Gene xxx - Single Exon SequencingOncology/Medical GeneticsPreferred$0.00
Generalized Arterial CalcificationMedical GeneticsPreferred$0.00
Glucose-6-Phosphate Dehydrogenase DeficiencyMedical GeneticsPreferred$0.00
HEMOPHILIA AMedical GeneticsPreferred$0.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) PanelMedical GeneticsPreferred$0.00
Hereditary Spastic Paraplegia PanelMedical GeneticsPreferred$0.00
Hirschsprung Disease (HSCR)Medical GeneticsPreferred$0.00
Intellectual Disability, Epilepsy, and Autism (IDEA) PanelMedical GeneticsPreferred$0.00
Lung Cancer SusceptibilityOncologyPreferred$0.00
Male Infertility PanelMedical GeneticsPreferred$0.00
Medulloblastoma/Nevoid Basal Cell CarcinomaMedical GeneticsPreferred$0.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy PanelMedical GeneticsPreferred$0.00
Neuronal Ceroid Lipofuscinosis 1Medical GeneticsPreferred$0.00
Nijmegen Breakage SyndromeMedical GeneticsPreferred$0.00
Nonsyndromic Congenital Heart Disease PanelMedical GeneticsPreferred$0.00
PABPN1 x1 SangerMedical GeneticsPreferred$0.00
Paired tumor/germlineOncologyPreferred$0.00
Peroxisomal Disorders PanelMedical GeneticsPreferred$0.00
Polygenic risk scoresCancer/Non-CancerPreferred$0.00
Primary Familial and Congenital Polycythemia (PFCP)Medical GeneticsPreferred$0.00
Severe Congenital Neutropenia and Cyclic NeutropeniaMedical GeneticsPreferred$0.00
Spherocytosis/Elliptocytosis PanelMedical GeneticsPreferred$0.00
Spinal Muscular Atrophy (SMA)Medical GeneticsPreferred$0.00
TARGETED TESTING via GENE SEQCancer/Non-CancerPreferred$0.00
Targeted Variants - Single Exon SequencingCancer/Non-CancerPreferred$0.00
Tooth Agenesis PanelMedical GeneticsPreferred$0.00
Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related DisordersMedical GeneticsPreferred$0.00
WFS1-Related DisordersMedical GeneticsPreferred$0.00
Xeroderma Pigmentosum (XP) PanelMedical GeneticsPreferred$0.00
X-Linked AdrenoleukodystrophyMedical GeneticsPreferred$0.00
Y Chromosome Deletion AnalysisMedical GeneticsPreferred$0.00
Pharmacogenetic comprehensive panelPGXPreferred$0.00
Chromosomal microarray analysis - High resolutionMedical GeneticsRequired$0.00
Chromosomal microarray analysis - High resolution + SNPMedical GeneticsPreferred$0.00

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