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Results: 1 to 20 of 61 (representing 32 labs)

Tests names and labsConditionsGenes and analytesMethods

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

HSAN3

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FD

Neurogenetics DNA Diagnostic Laboratory Massachusetts General Hospital
United States
11
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Comprehensive Neuropathy Sequencing Panel

PreventionGenetics
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel

PreventionGenetics
United States
1918
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

IKBKAP. Detection of the mutation c.2204 6T>C by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

IKBKAP. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Familial Dysautonomia Ashkenazic Mutation Panel

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

Ashkenazic Genetic Disease Screen (without Cystic Fibrosis)

Baylor Miraca Genetics Laboratories
United States
115
  • T Targeted variant analysis

Ashkenazic Genetic Disease Screen (with Cystic Fibrosis)

Baylor Miraca Genetics Laboratories
United States
125
  • T Targeted variant analysis

Ashkenazic Genetic Disease Panel

Baylor Miraca Genetics Laboratories
United States
74
  • S Mutation scanning of the entire coding region

Familial Dysautonomia via the IKBKAP Gene - Targeted Variants Analysis

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Dysautonomia via the IKBKAP Gene - Full Gene Sequencing

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Dysautonomia , Sequencing IKBKAP Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware ACMG/ACOG Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
1915
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware Ashkenazi Jewish Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
4437
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware ACMG/ACOG Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
1613
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Ashkenazi Jewish Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
4739
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 61

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.

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