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Results: 1 to 20 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

Myopathy (sequence analysis of MTTQ gene)

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

Muscular Dystrophy, Myopathy and Myasthenia Panel

Mendelics
Brazil
391
  • C Sequence analysis of the entire coding region

Inclusion Body Myopathy NGS Panel

Fulgent Genetics
United States
215
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nonsyndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
14699
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy NGS Panel

Fulgent Genetics
United States
18661
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency NGS Panel

Fulgent Genetics
United States
33090
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiomyopathy NGS Panel

Fulgent Genetics
United States
450128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders NGS Panel

Fulgent Genetics
United States
39283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oxidative Phosphorylation Disorders NGS Panel

Fulgent Genetics
United States
416235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypomyelinating Leukodystrophy NGS Panel

Fulgent Genetics
United States
22562
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebral Cortical Malformation NGS Panel

Fulgent Genetics
United States
21042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

RMND1 Single Gene

Fulgent Genetics
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SPEG Single Gene

Fulgent Genetics
United States
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ZBTB20 Single Gene

Fulgent Genetics
United States
641
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VMA21 Single Gene

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TXNRD2 Single Gene

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PRDM16 Single Gene

Fulgent Genetics
United States
131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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.