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Results: 1 to 20 of 40 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Succinic semialdehyde dehydrogenase deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

ALDH5A1 Sequence Analysis

Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences
Iran
11
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

ALDH5A1 Sequence Analysis

Genomic Research Center Shahid Beheshti University of Medical Sciences
Iran
11
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • -- Sequence analysis of the entire coding region

ALDH5A1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

ALDH5A1 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • C Sequence analysis of the entire coding region

ALDH5A1 Sequence & Deletion/Duplication Analysis

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

ALDH5A1 Prenatal Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Sequence analysis of select exons

ALDH5A1 Familial Mutation/Variant Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Sequence analysis of select exons

ALDH5A1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

Organic Acid Screen - Urine

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
1945
  • A Analyte

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Succinic semialdehyde dehydrogenase deficiency (ALDH5A1/SSADH)

VU University Medical Center Metabolic Unit, PX 1X 009
Netherlands
11
  • A Analyte
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

Succinic Semialdehyde Dehydrogenase Deficiency , Sequencing ALDH5A1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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.

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