Mutation Analysis Schedule I.pdf

Mutation Analysis Schedule I

Mutation Analysis Tests and Estimated Annual Volumes

TEST Volume/yr

Whole Genome Array CGH 70

MEFV 50

TNFRSF1A 50

MVK 50

CIAS1 10

ELA2 70

PSTPIP1 10

RAI1 30

MECP2 10

COH1 30

BCOR 5

MUT 8

MMAA 12

MMAB 3

MMACHC 5

MCOLN1 12

HPS-1 PR 5

HPS-3 PR 10

TEST Volume/yr

HPS-3 Ashken 5

PAX6 sequencing and/or FISH probe 1

SOX2 3

SIX6 3

FOXC1 2

PITX2 2

CHD7 1

CHM sequencing and protein analysis 2

FZD4, LRP5, NDP 25

CYP1B1 1

MYOC 1

KAL1 12

FGFR1 12

RDS 30

RS1 19

ABCA4 mutation scanning and sequencing 1

SALL1 1

PXE 1

IRAK4 1

RPS19 12

RPS24 6

DKC1 16

TERC 13

TERT 8

SBDS 5

RMRP 1

ELA2 2

HAX1 1

MPL 1

RSK2 1

TBX5 1

PTPN11 1

MEN, VHL, SDHB, SDHD 160

FH (Fumarate hydratase) 133

FLCN 98

VHL 51

RET 1

PTEN 4

PRKAR1A 30

SDHB 6

SDHC 5

SDHD 6

AAAS 5

AR 3

PTPN11 5

STK11/LKB1 10

MEN1/menin 75

CSR (calcium sensing receptor) 8

FGF-23 (fibroblast growth factor-23) 1

SPINK5 1

P16 3

BTK 6

PTEN 5

KRas 10

PTCH 10

CDKN2A 200

CDK4 25

DHCR7 1

NPC1 4

NPC2 10

MLIV 4

HRPT2 10

CASR 20

NOD2 5

ADA 1

WAS 5

CNGA3 2

CNGB3 50

CYP21A2 20

GBA 25

RB1 5

Mito DNA mutation analysis 1

Mito DNA 4-mutation panel 11778G>A, 14459G>A, 14484T>C, and 3460G>A

Mito DNA point mutations 5

NDP 2

OPTN, WDR36 1

Xq27.3 1

Gene specific, as available 1

Fragile X 275

CFTR 55

P53 16

GBA Ash. Jewish Panel 2

Zygosity testing 10