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INHERITED DISORDERS
( = Information Sheet)
OMIm
Click Link for Information Sheet ß-Thalessemia Mediterranean Anemia ß-Hemoglobinopathy
141900
Click Link for Information Sheet Sickle Cell Anemia HbS/HbC/HbSC
603903
Click Link for Information Sheet Male Infertility - Y Chromosome Microdeletion
415000
Click Link for Information Sheet Male Infertility - CFTR poly T
602421
Click Link for Information Sheet Hereditary Hemochromatosis
235200
Click Link for Information Sheet Hereditary Deafness - Connexin 26
121011
Click Link for Information Sheet Cystic Fibrosis (CF):
30 mutation panel
602421
Fact Sheet Being Prepared Detection of known mutations for any of the above offered tests
Click Link for Information Sheet Breast & Ovarian Cancer/Prostate Cancer:
Six mutations
113705
Click Link for Information Sheet Breast & Ovarian Cancer/Prostate Cancer:
BRCA1 - Whole gene screen
113705
Click Link for Information Sheet Breast & Ovarian Cancer/Prostate Cancer:
BRCA2 - Whole gene screen
600185
Click Link for Information Sheet Breast & Ovarian Cancer/Prostate Cancer:
BRCA1 and BRCA2 - Two gene screen
Click Link for Information Sheet Hereditary Non Polyposis Colon Cancer - HNPCC:
Mutation Screening - MSH2
120435
Click Link for Information Sheet Hereditary Non Polyposis Colon Cancer - HNPCC:
Mutation Screening - MLH1
120436
Click Link for Information Sheet Hereditary Non Polyposis Colon Cancer - HNPCC:
Mutation Screening - MSH6
600678
Click Link for Information Sheet Hereditary Non Polyposis Colon Cancer - HNPCC:
Mutation Screening - MSH2 and MLH1
Click Link for Information Sheet Hereditary Non Polyposis Colon Cancer - HNPCC:
Mutation Screening - MSH2 and MSH6
114500
Click Link for Information Sheet Hereditary Non Polyposis Colon Cancer - HNPCC:
Mutation Screening - MLH1 and MSH6
114500
Click Link for Information Sheet Hereditary Non Polyposis Colon Cancer - HNPCC:
Mutation Screening - All three genes
114500
Fact Sheet Being Prepared Detection of known mutations for any of the above offered tests
Click Link for Information Sheet Familial Adenomatous Polyposis Coli - APC:
Two most common mutations
175100
Click Link for Information Sheet Familial Adenomatous Polyposis Coli - APC:
Less common mutations (All exons with published mutations)
175100
Fact Sheet Being Prepared Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia, 2A & 2B
164761
Fact Sheet Being Prepared Detection of known mutations for any of the above offered tests


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