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Results: 1 to 20 of 34

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

ACVR2B - NGS including CNV analysis

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

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
4348
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Heterotaxy, visceral, 4, autosomal, 613751; HTX4 (Heterotaxia) (ACVR2B 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

Heterotaxy, visceral, 4, autosomal, 613751; HTX4 (Heterotaxia) (Prenatal) (MLPA)

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

Heterotaxy, visceral, 4, autosomal, 613751; HTX4 (Heterotaxia) (MLPA)

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

Heterotaxy, visceral, 4, autosomal, 613751; HTX4 (Heterotaxia) (ACVR2B 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

Invitae Congenital Heart Disease Panel

Invitae
United States
10755
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Heterotaxy, Visceral 4 (HTX4) via the ACVR2B Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Panel

PreventionGenetics, part of Exact Sciences
United States
135133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Heterotaxy visceral 4, autosomal (sequence analysis of ACVR2B gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Congenital structural heart disease panel. NGS panel of 62 genes.

Genologica Medica
Spain
11362
  • C Sequence analysis of the entire coding region

Ciliopathy panel. NGS panel of 99 genes.

Genologica Medica
Spain
15297
  • C Sequence analysis of the entire coding region

Heterotaxy and situs inversus panel. 32-gene NGS panel.

Genologica Medica
Spain
3431
  • C Sequence analysis of the entire coding region

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 34

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.