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Results: 21 to 40 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

Epidermolysis bullosa Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1323
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis bullosa Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1323
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Sensory and Autonomic Neuropathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
223106
  • 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

Charcot-Marie-Tooth (CMT) - Comprehensive Panel

PreventionGenetics, part of Exact Sciences
United States
9183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epidermolysis Bullosa and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
3118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneSeq® Neuro: Hereditary Sensory and Autonomic Neuropathy Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
124
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa (WES based NGS panel of 23 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
123
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa simplex AR (sequence analysis of DST gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Epidermolyisis Bullosa Panel

Mendelics
Brazil
125
  • C Sequence analysis of the entire coding region

Neuropathy Panel

Mendelics
Brazil
1104
  • C Sequence analysis of the entire coding region

HEREDITARY SENSORY-AUTONOMIC NEUROPATHY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
130
  • E Sequence analysis of select exons

CHARCOT-MARIE-TOOTH EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1151
  • E Sequence analysis of select exons

Dermatological. Full panel

Genologica Medica
Spain
12268
  • 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

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 55

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.