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Lab Services 2011
TypeName / DescriptionGeneAssociated DiseaseTechnologyPrice
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 GeneSequencing Ask
Other

2 Specific Known
Mutations

Any GeneSequencing 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 GeneSequencing 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 GeneSequencing Ask
Prenatal

Trisomy Detection 

Downs Syndrome 

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

Prenatal Diagnosis
of a Known Mutation

Any GeneSequencing Ask