36C25619Q0906-002.pdf

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Genetics Laboratory Testing
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36C25619Q0906
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36C25619Q0906 Estimated Quantity List.pdf

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Test Code Description/Part Number (Test Name)

Est.

Qty

1300 BLUEPRINT PANEL 1

1390 TOTAL BLUEPRINT PANEL 1

1399 WHOLE EXOME SEQUENCING - PROBAND - REFLEX AFTER BLUEPRINT 1

1500 WHOLE EXOME SEQUENCING - PROBAND 1

1530 WHOLE EXOME SEQUENCING - PROBAND + CMA 1

1531 WHOLE EXOME SEQUENCING - PROBAND + COMP MTDNA ANALYSIS 1

1532 WHOLE EXOME SEQUENCING - TRIO + COMP MTDNA ANLYS 1

1533 WHOLE EXOME SEQUENCING - TRIO + COMP MTDNA ANLYS - CRITICAL 1

1580 CUSTOM FAMILY SEQUENCING - GENE 1 4

1600 WHOLE EXOME SEQUENCING - TRIO 1

1622 WHOLE EXOME SEQUENCING - TRIO - PRENATAL 1

1722 WHOLE EXOME SEQUENCING - TRIO - CRITICAL 1

1800 WHOLE GENOME SEQUENCING - TRIO 1

2000 MITOMET PLUS ACGH ANALYSIS 1

2001 OLIGONUCLEOTIDE ACGH ANALYSIS TARGETED ANALYSIS 1

2085 DUAL GENOME PANEL BY NGS 5

2090 LOW BONE MASS PANEL BY NGS 5

2140 PEO PANEL BY NGS 5

2554 ATP7B - SEQ AND DEL/DUP ANALYSIS 1

3069 POLG - SEQ AND DEL/DUP ANALYSIS 5

3200 MITO RESP CHAIN ENZYME ANALYSIS - SKELETAL MUSCLE 1

3284 LPIN1 - SEQ AND DEL/DUP ANALYSIS 5

3404 GAA - SEQ AND DEL/DUP ANALYSIS 1

3600 HEREDITARY PARAGANGLIOMA PHEOCHROMOCYTOMA SYNDROMES PANEL 1

3660 RET - SEQUENCE ANALYSIS 1

3665 MEN1 - SEQUENCE ANALYSIS 1

3740 FH - SEQUENCE ANALYSIS 1

4100 AMINO ACID ANALYSIS - PLASMA 1

4200 URINE ORGANIC ACID 1

4300 PLASMA CARNITINE AND ACYLCARNITINE 1

4569 HEXA HEXB - ENZYME ANALYSIS - SERUM 1

6011 GLA - SEQ AND DEL/DUP ANALYSIS 5

6031 FXN - FRIEDREICH ATAXIA REPEAT EXPANSION ANALYSIS 1

6034 HTT - HUNTINGTON DISEASE REPEAT EXPANSION ANALYSIS 2

6035 HFE - MUTATION PANEL 1

6037 AR - KENNEDY DISEASEE REPEAT EXPANSION ANALYSIS 1

6041 DMPK - MYOTONIC DYSTROPHY TYPE 1 REPEAT EXPANSION ANALYSIS 1

6062 THROMBOPHILIA MUTATION PANEL 1

6085 DMD - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6087 APC - SEQUENCE ANALYSIS 1

6089 APC - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6095 MLH1 - SEQUENCE ANALYSIS 1

6096 MSH2 - SEQUENCE ANALYSIS 1

6097 MSH6 - SEQUENCE ANALYSIS 1

6098 HNPCC MSI AND IHC SCREENING 1

6103 MUTYH - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6104 MUTYH - MUTATION PANEL 1

6118 TP53 - SEQUENCE ANALYSIS 1

6119 TP53 - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6120 MUTYH - SEQUENCE ANALYSIS 1

6121 RECQL4 - SEQUENCE ANALYSIS 1

6122 RECQL4 - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6142 MLH1 - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6143 MSH2 - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6144 MSH6 - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6376 CFTR - SEQ AND DEL/DUP ANALYSIS 1

6380 ARSA - SEQUENCE ANALYSIS 1

6415 GALC - SEQUENCE ANALYSIS 1

6505 PTEN - SEQUENCE ANALYSIS 1

6510 PTEN - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6520 RUNX1 - SEQUENCE ANALYSIS 1

6525 RUNX1 - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6573 FMR1 - CGG REPEAT EXPANSION ANALYSIS 1

6585 COL5A1 - SEQUENCE ANALYSIS 1

6590 COL5A2 - SEQUENCE ANALYSIS 1

6640 PMS2 - SEQUENCE ANALYSIS 1

6641 PMS2 - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6705 MLH1 - SEQ AND DEL/DUP ANALYSIS 3

6706 MLH1 - DEL/DUP ANALYSIS 1

6710 MSH2 - SEQ AND DEL/DUP ANALYSIS 1

6711 MSH2 - DEL/DUP ANALYSIS 1

6715 MSH6 - SEQ AND DEL/DUP ANALYSIS 1

6716 MSH6 - DEL/DUP ANALYSIS 1

6720 APC - SEQ AND DEL/DUP ANALYSIS 1

6721 APC - DEL/DUP ANALYSIS 1

6740 LDLR - SEQ AND DEL/DUP ANALYSIS 1

6765 VHL - SEQUENCE ANALYSIS 1

6766 VHL - FAMILIAL MUTATION/VARIANT ANALYSIS 1

6770 VHL - SEQ AND DEL/DUP ANALYSIS 1

6775 VHL - DEL/DUP ANALYSIS 1

6785 PTEN - DEL/DUP ANALYSIS 1

6790 PTEN - SEQ AND DEL/DUP ANALYSIS 1

6795 PMS2 - DEL/DUP ANALYSIS 1

6820 TP53 - DEL/DUP ANALYSIS 1

6821 TP53 - SEQ AND DEL/DUP ANALYSIS 1

6888 EPCAM - DELETION ANALYSIS 1

6890 PMS2 - SEQ AND DEL/DUP ANALYSIS 2

7521 COL2A1 - SEQ AND DEL/DUP ANALYSIS 1

8025 ONCOLOGY FISH - ERBB2 (HER2/NEU) 1

8030 ALK GENE REARRANGEMENT BY FISH ANALYSIS 1

8031 ONCOLOGY FISH - RET REARRANGEMENT 1

8035 EGFR FISH ANALYSIS 1

8050 ONCOLOGY CHROMOSOME ANALYSIS - SOLID TUMOR 1

8055 1P/19Q CO-DELETION BY FISH - FFPE 1

8060 1P/19Q CO-DELETION BY FISH - FRESH TISSUE 1

8065 DXZ1/DYZ3 FISH FOR SEX MISMATCHED BMT 1

8075 ONCOLOGY FISH - SS18 1

8080 ONCOLOGY FISH - TCF3/PBX1 FISH for ALL 1 8085 ClariFind FISH 1

8095 ONCOLOGY FISH - MET 1

8300 ONCOLOGY CHROMOSOME ANALYSIS 1

8385 ONCOLOGY FISH - GAIN 8 CHROMOSOME 1

8405 CUSTOM FISH 1

8410 ANEUPLOIDY FISH 1

8425 RAPID FISH - ANEUVYSION T13 T18 T21 X Y 1

8426 RAPID FISH ANALYSIS SEX CHROMOSOME X/SRY 1

8430 FISH ANALYSIS - LANGER GIEDION SYNDROME PANEL EXT1 AND TRPS1 1

8435 FISH ANALYSIS - MULTIPLE EXOSTOSES PANEL EXT1 AND EXT2 1

8440 FISH ANALYSIS - DIGEORGE/VELOCARDIOFACIAL SYND 22Q AND 10P 1

8450 FISH ANALYSIS - WAGR SYNDROME WT1 AND PAX6 1

8455 FISH ANALYSIS - WILMS WT1 TUMOR 1

8456 FISH ANALYSIS - 1P36 DELETION SYNDROME 1

8457 FISH ANALYSIS - ADRENAL HYPOPLASIA CONGENITA 1

8458 FISH ANALYSIS - ALAGILLE SYNDROME JAG1 RELATED 1

8459 FISH ANALYSIS - ANGELMAN SYNDROME 1

8460 FISH ANALYSIS - BECKWITH-WIEDEMANN SYNDROME 1

8462 FISH ANALYSIS - CHARCOT MARIE TOOTH CMT1A DISEASE 1

8464 FISH ANALYSIS - CRI DU CHAT SYNDROME 1

8465 FISH ANALYSIS - DIGEORGE SYNDROME II 10P ONLY 1

8466 FISH ANALYSIS - GLYCEROL KINASE DEFICIENCY 1

8467 FISH ANALYSIS - HNPP 1

8468 FISH ANALYSIS - LIS1 ASSC LSSNCPLY/SBCRTCL BAND HETEROTOPIA 1

8469 FISH ANALYSIS - KALLMAN SYNDROME TYPE I 1

8470 FISH-MICROPHTHALMIA WITH LINEAR SKIN LESIONS MLS/MIDAS 1

8471 FISH ANALYSIS - MILLER-DIEKER SYNDROME 1

8472 FISH ANALYSIS - MULTIPLE EXOSTOSES 1 EXT1 1

8473 FISH-MULTIPLE EXOSTOSES 2 / POTOCKI-SHAFFER EXT2 AND ALX4 1

8474 FISH ANALYSIS - NEUROFIBROMATOSIS 1 1

8476 FISH ANALYSIS - PRADER-WILLI SYNDROME 1

8477 FISH ANALYSIS - RUBINSTEIN-TAYBI SYNDROME 1

8478 FISH ANALYSIS - SMITH-MAGENIS SYNDROME 1

8479 FISH ANALYSIS - SOTOS SYNDROME 1

8480 FISH ANALYSIS - SRY ANALYSIS 1

8482 FISH ANALYSIS - TRICHORHINOPHALANGEAL SYNDROME TYPE I 1

8483 FISH ANALYSIS - WILLIAMS SYNDROME 1

8484 FISH ANALYSIS - WOLF-HIRSCHORN SYNDROME 1

8485 FISH ANALYSIS - X-LINKED ICHTHYOSIS/STS DEFICIENCY 1

8486 FISH ANALYSIS - DIGEORGE/VELOCARDIOFACIAL SYND TYPE I 22Q 1

8500 CHROMOSOME ANALYSIS - PRENATAL - AMNIO WITH AFP 1

8520 CHROMOSOME ANALYSIS - PRENATAL - AFP ACHE FH 1

8530 CHROMOSOME ANALYSIS - PRENATAL - AMNIOTIC FLUID 1

8540 CHROMOSOME ANALYSIS - PRENATAL - AMNIO WITH ACHE 1

8600 CHROMOSOME ANALYSIS - BLOOD 4

8639 CHROMOSOMAL MICROARRAY ANALYSIS - TISSUE 1

8655 CHROMOSOMAL MICROARRAY ANALYSIS - HR 1

8656 TARGETED CMA - PRENATAL DIAGNOSIS - AMNIOTIC FLUID 1

8657 TARGETED CMA - PRENATAL DIAGNOSIS - CVS 1

8665 CHROMOSOMAL MICROARRAY ANALYSIS - HR SNP SCREEN 7

8670 EXPANDED CHROMOSOMAL MICROARRAY ANALYSIS - PRENATAL - AMNIO 1

8671 EXPANDED CHROMOSOMAL MICROARRAY ANALYSIS - PRENATAL - CVS 1

8672 CMA TARGETED AND LIMITED KARYOTYPE - PRENATAL - CVS 1

8673 CMA TARGETED AND LIMITED KARYOTYPE - PRENATAL - AMNIO 1

8675 CMA EXPANDED AND LIMITED KARYOTYPE - PRENATAL - AMNIO 1

8676 CMA EXPANDED AND LIMITED KARYOTYPE - PRENATAL - CVS 1

8700 CHROMOSOME ANALYSIS - PRENATAL - CVS 1

8710 ONCOLOGY FISH - DELETION 5 MDS 1

8715 ONCOLOGY FISH - DELETION 7 MDS 1

8720 ONCOLOGY FISH - DELETION 20Q12 MDS 1

8725 ONCOLOGY FISH - ETO/AML1 T 8 21 AML 1

8730 ONCOLOGY FISH - CHIC2 DELETED 4Q HYPEREOSINOPHILIC SYNDROME 1

8735 ONCOLOGY FISH - PML/RARA T 15 17 AML 1

8740 ONCOLOGY FISH - CBFB INV 16 AML 1

8745 ONCOLOGY FISH - MLL 11Q24 1

8750 ONCOLOGY FISH - BCR/ABL t 9 22 CML/ALL/AML 1

8755 ONCOLOGY FISH - TEL/AMLI T 12 21 ALL 1

8760 ONCOLOGY FISH - MYC TRANSLOCATION 1

8765 ONCOLOGY FISH - IGH/BCL2 T 14 18 FOLLICULAR LYMPHOMA 1

8770 ONCOLOGY FISH - IGH/CCND1 T 14 11 MANTLE CELL LYMPHOMA 1

8775 ONCOLOGY FISH - BCL6 1

8780 ONCOLOGY FISH - IGH 1

8781 ONCOLOGY FISH - ROS1 1

8785 BCL2 rearrangement 1 8786 MALT1 lymphoma 1 8787 non-small cell lung cancer FISH 1 8788 Oncology FISH Analysis p53 1 8789 Aggressive high-grade B-cell Lymphoma FISH panel 1

8840 TISSUE CULTURE AND FREEZE BACK 1

8972 BCR-ABL1 minor (p190) Quantitative 1 8975 PD-L1 22C3 IHC for NSCLC by immunohistochemistry with interpretation. Pembrolizumab (KEYTRUDA) 1 8976 PD-L1 28-8 pharmDx IHC w/ interpretation. Nivolumab 1 8977 PD-L1 22C3 IHC with combined positive score (CPS) interpretation. Pembrolizumab (KEYTRUDA) 1

9003 BRAF V600E MUTATION DETECTION IN HAIRY CELL LEUKEMIA 1

9005 NPM1 MUTATION BY PCR AND FRAGMENT ANALYSIS 1

9010 JAK2 GENE, V617F MUTATION, QUALITATIVE 1

9015 JAK2 EXON 12 MUTATION ANALYSIS BY PCR 1

9016 CALR (CALRETICULIN) EXON 9 MUTATION ANALYSIS BY PCR 1

9020 MPL CODON 515 MUT DETECT BY PYROSEQUENCING, QUANT 1

9030 EGFR MUTATION DETECTION BY PYROSEQUENCING 1

9045 FLT3 - MUTATION ANALYSIS 1

9055 TP53 SOMATIC MUTATION, PROGNOSTIC 1

9057 TP53 - TARGETED MUTATION ANALYSIS - GERMLINE 1

9060 IGHV MUTATION ANALYSIS BY SEQUENCING 1

9065 BCR-ABL1, MAJOR (P210), QUANTITATIVE 1

9070 BCR-ABL1, QUALITATIVE WITH REFLEX TO BCR-ABL1 QUANTITATIVE 1

9080 PML-RARA TRANSLOCATION, T(15;17) BY RT-PCR, QUANTITATIVE 1

9086 CEBPA Mutation Detection 1

9103 KIT MUTATIONS, MELANOMA 1

9104 GASTROINTESTINAL STROMAL TUMOR MUTATION 1

9105 KIT MUTATIONS IN AML BY FRAGMENT ANALYSIS AND SEQUENCING 1

9128 KRAS MUTATION DETECTION 1

9150 MICROSATELLITE INSTABILITY MSI, HNPCC/LYNCH SYNDROME, BY PCR 1

9202 B-CELL CLONALITY SCREENING (IGH AND IGK) BY PCR 1

9217 COMPREHENSIVE T-CELL CLONALITY ANALYSIS 1

9305 BCR-ABL1 MUT ANALYS TYROSINE KINASE INHIBITOR RESISTANCE NGS 1

9505 CANCER CHROMOSOMAL MICROARRAY ANALYSIS - 180K CGH/SNP ARRAY 1

9515 CYTOSCAN HD SNP ARRAY - TUMOR 1

9705 SOLID TUMOR MUTATION PANEL 1

20004 HEREDITARY CANCER PANEL COMPREHENSIVE 2

20010 ClariFind Comprehensive DNA Panel 2

20640 MTHFR - GENE SEQUENCING BY NGS 1

22304 HEREDITARY BRAIN CNS PNS CANCER PANEL 1

22335 PHOX2B - GENE SEQUENCING BY NGS 1

22350 BRCA1/BRCA2 - SEQ AND DEL/DUP ANALYSIS 1

22404 HEREDITARY BREAST/OVARIAN/ENDOMETRIAL CANCER PANEL 10

22504 HEREDITARY RENAL CANCER PANEL BY NGS 1

22505 CDKN1C - GENE SEQUENCING BY NGS 1

22510 FLCN - GENE SEQUENCING BY NGS 1

22604 HEREDITARY ENDOCRINE CANCER PANEL BY NGS 7

22704 HEREDITARY LEUKEMIA/LYMPHOMA PANEL BY NGS 1

22804 HEREDITARY COLORECTAL/GASTROINTESTINAL CANCER PANEL 10

22820 ENG - GENE SEQUENCING BY NGS 1

22904 HEREDITARY MELANOMA PANEL BY NGS 5

23000 HEREDITARY BREAST CANCER PANEL HIGH RISK 10

23104 HEREDITARY PARAGANGLIOMA/PHEOCHROMOCYTOMA PANEL 1

23204 HEREDITARY COLORECTAL CANCER PANEL HIGH RISK 3

23304 HEREDITARY PANCREATIC CANCER PANEL BY NGS 3

23404 HEREDITARY PROSTATE CANCER PANEL BY NGS 3

24000 COMMON HEREDITARY CANCER PANEL (27 genes) 1

29271 NDP - FAMILIAL MUTATION/VARIANT ANALYSIS 1

60101 GENEAWARE COMPLETE FEMALE V2 1

60106 GENEAWARE COMPLETE MALE V2 1

60201 GENEAWARE ASHKENAZI JEWISH FEMALE V2 1

60206 GENEAWARE ASHKENAZI JEWISH MALE V2 1

60301 GENEAWARE ACMG/ACOG FEMALE V2 1

60306 GENEAWARE ACMG/ACOG MALE V2 1

60401 GENEAWARE BASIC FEMALE V2 1

60406 GENEAWARE BASIC MALE V2 1

IGCE

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