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Results: 21 to 40 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007, Autosomal recessive; CAGSSS (Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

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

WES mitochondrial disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1369
  • E Sequence analysis of select exons

IARS2 - growth hormone deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Leigh and Leigh-Like Syndrome Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
4163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

GeneDx
United States
1189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IARS2

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Nuclear-Encoded Mitochondrial Disorders Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias and Disorders Panel 

CGC Genetics Unilabs
Portugal
1606
  • C Sequence analysis of the entire coding region

Neuropathy Panel

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

MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1416
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

General panel of metabolic myopathies

Genologica Medica
Spain
114110
  • 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

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Results: 21 to 40 of 52

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.