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Results: 1 to 20 of 90

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Hearing Loss-Common and Non-Syndromic Hearing Loss Panel

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
6457
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HSPAR panel

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
110
  • C Sequence analysis of the entire coding region

AHUS/MPGN panel

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
28
  • C Sequence analysis of the entire coding region

NCL Panel

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
17
  • C Sequence analysis of the entire coding region

CMD panel

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
15
  • C Sequence analysis of the entire coding region

FSGS Panel

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
15
  • C Sequence analysis of the entire coding region

Test for Spastic Paraplegia 44

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for Chromosome 11p15.5-Related Russell-Silver Syndrome

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • D Deletion/duplication analysis
  • M Methylation analysis

Test for chromosome 7 related Russell-Silver Syndrome

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • U Uniparental disomy study (UPD)

Test for FKTN-Related Muscle Diseases

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for THBD-Related Atypical Hemolytic-Uremic Syndrome

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for C3-Related Atypical Hemolytic-Uremic Syndrome

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for Congenital Finnish Nephrosis

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for DFNX2 Nonsyndromic Hearing Loss and Deafness

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Test for Spastic Paraplegia 39

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for CD46-Related Atypical Hemolytic-Uremic Syndrome

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for CFH-Related Atypical Hemolytic-Uremic Syndrome

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for ARSACS

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Test for Spastic Paraplegia 11

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 90

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.