U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 36

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Congenital disorder of glycosylation, type Iq, 612379, Autosomal recessive; CDG1Q (Al-Gazali-Dattani syndrome) (SRD5A3 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

Congenital disorder of glycosylation, type Iq, 612379, Autosomal recessive; CDG1Q (Al-Gazali-Dattani syndrome) (SRD5A3 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

Comprehensive Cataracts Panel

PreventionGenetics, part of Exact Sciences
United States
157171
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Disorders of Glycosylation (CDG) Panel

PreventionGenetics, part of Exact Sciences
United States
5654
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lissencephaly and related disorders Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lissencephaly and related disorders Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lissencephaly and related disorders NGS test

HNL Genomics Connective Tissue Gene Tests
United States
4642
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation Panel

Baylor Genetics
United States
2927
  • E Sequence analysis of select exons

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Comprehensive Brain Malformation Panel

Genetic Services Laboratory University of Chicago
United States
37131
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SRD5A3

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Congenital disorder of glycosylation type Iq (sequence analysis of SRD5A3 gene)

CGC Genetics Unilabs
Portugal
11
  • 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

Panel of congenital disorders of glycosylation. NGS panel of 47 genes.

Genologica Medica
Spain
5547
  • C Sequence analysis of the entire coding region

5α-Reductase Deficiency Type 2

Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center
Turkey
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 36

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.