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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Cancer Panel Comprehensive

Molecular Genetics Laboratory London Health Sciences Centre
Canada
3930
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot Marie Tooth Type 1A

Molecular Genetics Laboratory London Health Sciences Centre
Canada
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Neuropathy with Liability to Pressure Palsies (PMP22)

Molecular Genetics Laboratory London Health Sciences Centre
Canada
31
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

CMT Type1E, PMP22

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MSH6 - Related Lynch Syndrome

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MSH2 - Related Lynch Syndrome

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MLH1 Related Lynch Syndrome

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth Type 2A2 (MFN2)

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth X-linked

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Hyperkalemic Periodic Paralysis Type 1

Molecular Genetics Laboratory London Health Sciences Centre
Canada
31
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth Type 2I/2J/1B

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Molecular Genetics Laboratory London Health Sciences Centre
Canada
12
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

RETT syndrome (MECP2)

Molecular Genetics Laboratory London Health Sciences Centre
Canada
21
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons

Lynch Syndrome Microsatellite instability

Molecular Genetics Laboratory London Health Sciences Centre
Canada
15
  • I Microsatellite instability testing (MSI)

Multiple Endoctine Neoplasia Type 1 (MENIN)

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Molecular Genetics Laboratory London Health Sciences Centre
Canada
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CADASIL

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polycythemia vera

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • T Targeted variant analysis

BRCA1-Hereditary Cancer of the Breast

Molecular Genetics Laboratory London Health Sciences Centre
Canada
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple Endoctine Neoplasia Type 2 (RET)

Molecular Genetics Laboratory London Health Sciences Centre
Canada
51
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.