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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

Sensory Neuropathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2525
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DST - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Invitae
United States
9545
  • D Deletion/duplication analysis

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, Part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuropathy, hereditary sensory and autonomic, type VI, 614653, Autosomal recessive; HSAN6 (Hereditary sensory and autonomic neuropathy type 6) (DST gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Skin and Connective Tissue Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
12569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Sensory and Autonomic Neuropathy Panel

Invitae
United States
2515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Sensory and Autonomic Neuropathy Panel

PreventionGenetics, Part of Exact Sciences
United States
2020
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dermatological. Full panel

Genologica Medica
Spain
12368
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa panel. NGS panel of 24 genes.

Genologica Medica
Spain
5524
  • C Sequence analysis of the entire coding region

DST

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Hereditary sensory and autonomic neuropathy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1414
  • C Sequence analysis of the entire coding region

SCN11A Single Gene

Fulgent Genetics
United States
101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth and Sensory Neuropathies Panel

CeGaT GmbH
Germany
6384
  • C Sequence analysis of the entire coding region

DST Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.