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Lab Services 2011
Type Name / Description Gene Associated Disease Technology Price
Deletion/Duplication

STK11 

 		STK11

Peutz-Jeghers Syndrome (PJS)
 

 MLPA Ask
Deletion/Duplication

TP53 

 		P53

Li-Fraumeni Syndrome (LFS)
 

 MLPA Ask
Deletion/Duplication

UBE3A 

 		UBE3A, MTHFR, GABRB3, AXIN1

Angelman
 

 MLPA Ask
Deletion/Duplication

PTCH1 

 		PTCH

Gorlin Syndrome
 

 MLPA Ask
Deletion/Duplication

NF1 

 		NF1

Neurofibromatosis
 

 MLPA Ask
Deletion/Duplication

PAX6 

 		PAX6, SOX2, WT1

Ocular Malformations, hereditary
 

 MLPA Ask
Deletion/Duplication

Sotos Syndrome  

 		NSD1

Sotos Syndrome
 

 MLPA Ask
Deletion/Duplication

TSC1 

 		TSC1

Tuberous Sclerosis
 

 MLPA Ask
Deletion/Duplication

BWS/RSS 

 		11p15 region, H19, IGF2, CDKN1C, KCNQ1

Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS)
 

 MLPA Ask
Deletion/Duplication

COL11A1 

 		COL11A1

Marshall, type II Stickler Syndromes
 

 MLPA Ask
Deletion/Duplication

DiGeorge 

 		22q11

DiGeorge Syndrome
 

 MLPA Ask
Deletion/Duplication

EXT 

 		EXT1, EXT2

Multiple Osteochondromas
 

 MLPA Ask
Deletion/Duplication

EYA1  

 		EYA1

Branchio-oto-renal Dysplasia Syndrome (BOR)
 

 MLPA Ask
Deletion/Duplication

DMD

 		DMD

Duchene Muscular Dystrophy (DMD)
 

 MLPA Ask
Deletion/Duplication

BRCA1, BRCA2

 BRCA1, BRCA2

Breast Cancer, hereditary 
 

 MLPA Ask
Deletion/Duplication

MLH1

 		MLH1

Hereditary Nonpolyposis Colon Cancer (HNPCC)
 

 MLPA Ask
Deletion/Duplication

MSH2

 		MSH2

Hereditary Nonpolyposis Colon Cancer (HNPCC)
 

 MLPA Ask
Deletion/Duplication

APC

 		APC

Hereditary Polyposis Colon Cancer
 

 MLPA Ask
Deletion/Duplication

NF2

 		NF2

Neurofibromatosis type 2 (NF2)
 

 MLPA Ask
Deletion/Duplication

VHL

 		VHL

Von Hippel-Lindau Syndrome
 

 MLPA Ask
Deletion/Duplication

PKHD1

 		PKHD1

Polycystic Kidney Disease, autosomal recessive (ARPKD)
 

 MLPA Ask
Deletion/Duplication

PTEN

 		PTEN

Cancer
 

 MLPA Ask
Deletion/Duplication

TSC2

 		TSC2

Tuberous Sclerosis
 

 MLPA Ask
MLPA

Microdeletion syndromes 

 		Various

Microdeletion syndromes
 

 Sequencing Ask
Mutation Analysis

BRCA- 3 Ashkenazy Mutations

 		BRCA

Cancer

 Pronto Technology Ask
Mutation Analysis

BRCA1, BRCA2

 BRCA1, BRCA2

Breast Cancer, hereditary
 

 Full Sequencing Ask
Mutation Analysis

MSH2

 		MSH2

Hereditary Non-polyposis Colorectal Cancer

 Full Sequencing Ask
Mutation Analysis

MLH1

 		MLH1

Hereditary Nonpolyposis Colorectal Cancer

 Full Sequencing Ask
Mutation Analysis

MSH6

 		MSH6

Hereditary Non-polyposis Colorectal Cancer

 Full Sequencing Ask
Mutation Analysis

PMS2

 		PMS2

Hereditary Non-polyposis Colorectal Cancer

 Full Sequencing Ask
Mutation Analysis

APC

 		APC

Hereditary Polyposis Colon Cancer
  

 Full Sequencing Ask
Mutation Analysis

MYH

 		MYH

Colorectal Cancer

 Full Sequencing Ask
Mutation Analysis

VHL

 		VHL

Von Hippel-Lindau Syndrome
 

 Full Sequencing Ask
Mutation Analysis

KCNQ1

 		KCNQ1

1. Long QT Syndrome 1, LQT1
2. Jervell and Lange-Nielsen Syndrome, JLNS1

 Full Sequencing Ask
Mutation Analysis

KCNH2 

 		KCNH2

Long QT Syndrome

 Full Sequencing Ask
Mutation Analysis

TPMT

 		TPMT

Thiopurine Methyltransferase 

 Full Sequencing Ask
Mutation Analysis

PKHD1

 		PKHD1

Polycystic Kidney Disease, autosomal recessive (ARPKD)
 

 Full Sequencing Ask
Mutation Analysis

CF

 		CFTR

Cystic Fibrosis 

 Full Sequencing Ask
Mutation Analysis

DHCR7
(Dehydrocholesterol
Reductase)
 

 		DHCR7

Smith-Lemli-Opitz
Syndrome, SLO

 Full Sequencing Ask
Mutation Analysis

NF2

 		NF2

Neurofibromatosis type 2 (NF2)
  

 Full Sequencing Ask
Mutation Analysis

PTEN

 		PTEN 10q23

Cancer
 

 Full Sequencing Ask
Other

Known Familial
Specific Mutation

 		Any Gene Sequencing Ask
Other

2 Specific Known
Mutations

 		Any Gene Sequencing Ask
Pharmacogenetics

TamoxiRisk™

 CYP2D6 [6 mutations + Deletion / Duplication]

Cancer

 Sequencing + MLPA Ask
Pharmacogenetics

ClopidoRiskTM

 		CYP2C19 (*2,*3,*4,*5) ABCB1 (3435C>T)

Clopidogrel metabolism

 Pronto Technology Ask
Pharmacogenetics

WarfaRisk+TM

 		CYP2C9 (*2 [430C>T], *3 [1075A>C]) VKORC1 (-1639G>A, 5417G>T)

Warfarin dosage

 Pronto Technology Ask
Pharmacogenetics

ThromboRiskTM

 		F5 / Factor V (1691G>A) F2 / Factor II (20210G>A) MTHFR (677C>T)

Predisposition to Thrombosis

 Pronto Technology Ask
Pharmacogenetics

5FURisk™

 		DPYD [1 mutation]

Cancer

 Sequencing Ask
Pharmacogenetics

5FURisk™ 

 		DPYD [5 mutations]

Cancer

 Sequencing Ask
Pharmacogenetics

IrinoteRisk™

Irinotecan

 Fragment Analysis Ask
Prenatal

Detection of a Specific Mutation in Amniotic Fluid/  Chorionic Villi
(including maternal cell contamination)

 		Any Gene Sequencing or MLPA + QF-PCR Ask
Prenatal

DMD Screening in Amniotic Fluid

 		Dystrophin

Duchenne Muscular Dystrophy

 MLPA Ask
Prenatal

DMD Screening in Chorionic Villi (Including maternal cell contamination)

 		Dystrophin

Duchenne Muscular Dystrophy

 MLPA + QF-PCR Ask
Prenatal

Confirmation of Familial  Mutation

 		Any Gene Sequencing Ask
Prenatal

Trisomy Detection 

Downs Syndrome 

 QF-PCR - Chr.21,18,13 X,Y Ask
Prenatal

Prenatal Diagnosis
of a Known Mutation

 		Any Gene Sequencing Ask