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Results: 1 to 20 of 90

Tests names and labsConditionsGenes, analytes, and microbesMethods

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

aCGH study for cryptic quantitative genomic imbalances

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
9024
  • D Deletion/duplication analysis

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

TBX1 - MLPA

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Invitae Hypoparathyroidism Panel

Invitae
United States
4118
  • D Deletion/duplication analysis

SNP Microarray Analysis (Chromosomal Microarray)

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
4521
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

VACTERL Association and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nonsyndromic Congenital Heart Disease Panel

PreventionGenetics, part of Exact Sciences
United States
5444
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Velocardiofacial syndrome, 192430, Autosomal dominant (22q11.2 deletion syndrome) (FISH)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • F Fluorescence in situ hybridization (FISH)

Velocardiofacial syndrome, 192430, Autosomal dominant (22q11.2 deletion syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Velocardiofacial syndrome, 192430, Autosomal dominant (22q11.2 deletion syndrome) (Prenatal) (FISH)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • F Fluorescence in situ hybridization (FISH)

Velocardiofacial syndrome, 192430, Autosomal dominant (22q11.2 deletion syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

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

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 90

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.