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Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

ACADL Gene LCAD deficiency NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Fatty Acid Oxidation Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fatty Acid Oxidation Panel (MitomeNGS)

Baylor Genetics
United States
1617
  • C Sequence analysis of the entire coding region

ACADL Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

ACADL Sequence Analysis

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

ACADL Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

ACADL Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1180
  • C Sequence analysis of the entire coding region

LCAD deficiency (sequence analysis of ACADL gene)

CGC Genetics Unilabs
Portugal
11
  • 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

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

Comprehensive Eye panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
1695
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes.

Genologica Medica
Spain
8952
  • C Sequence analysis of the entire coding region

Fatty acid oxidation syndrome panel. NGS panel of 26 genes.

Genologica Medica
Spain
3026
  • 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

Congenital Hypotonia Xpanded Panel

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

Results: 1 to 20 of 37

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.