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Results: 21 to 40 of 101

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD (HMG-CoA lyase deficiency, 246450, Autosomal recessive) (3-hydroxy-3-methylglutaric aciduria) (HMGCL gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD (HMG-CoA lyase deficiency, 246450, Autosomal recessive) (3-hydroxy-3-methylglutaric aciduria) (HMGCL gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Invitae Hyperammonemia Panel

Invitae
United States
7572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HMG-CoA Lyase Deficiency

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Disorders of Fatty Acid Oxidation (FAOD) Panel

PreventionGenetics, part of Exact Sciences
United States
3232
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Metabolic Hypoglycemia Panel

PreventionGenetics, part of Exact Sciences
United States
3838
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Fatty Acid Oxidation Defects Panel

Invitae
United States
2825
  • D Deletion/duplication analysis

Invitae Elevated C5-OH Panel

Invitae
United States
1715
  • D Deletion/duplication analysis

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HMGCL Sequence Analysis

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

HMGCL Sequence & Deletion/Duplication Analysis

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

HMGCL Prenatal Sequence Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Results: 21 to 40 of 101

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.