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Results: 21 to 40 of 59

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuromuscular Disorders Panel

Baylor Genetics
United States
1142
  • C Sequence analysis of the entire coding region

Neuromuscular diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
17248
  • C Sequence analysis of the entire coding region

Myopathies panel

CGC Genetics Unilabs
Portugal
1181
  • C Sequence analysis of the entire coding region

Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1240
  • C Sequence analysis of the entire coding region

Neuromuscular Diseases Panel (Expanded)

Mendelics
Brazil
1288
  • 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

ARTHROGRIPOSIS PANEL

Laboratorio de Genetica Clinica SL
Spain
1245
  • E Sequence analysis of select exons

MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL

Laboratorio de Genetica Clinica SL
Spain
1250
  • E Sequence analysis of select exons

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

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

Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel.

Genologica Medica
Spain
9642
  • C Sequence analysis of the entire coding region

Girdle muscular dystrophy. NGS panel of 39 genes.

Genologica Medica
Spain
8439
  • 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

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathies (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
855
  • 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

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 59

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.