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Results: 1 to 20 of 85

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

High-Resolution Rapid Microarray (CGH and SNP)

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

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
124129
  • E Sequence analysis of select exons

Rapid microarray (CGH and SNP)

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

Alagille syndrome type 1

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

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Alagille Syndrome Sequencing Panel

PreventionGenetics
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome Sequencing Panel

PreventionGenetics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis Sequencing Panel

PreventionGenetics
United States
1815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Alagille Syndrome

Human Genetics University Hospital Bern
Switzerland
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

JAG1. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

JAG1. Sequencing of the exons 1-6, 9, 12, 17, 20, 23 and 24

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

JAG1. Complete sequencing

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

Alagille Syndrome-1 via the JAG1 Gene

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

MitoMet®Plus aCGH Analysis

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

CustomNext: Cardio

Ambry Genetics
United States
238106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CardioNext with TTN

Ambry Genetics
United States
19285
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Alagille Syndrome Types 1 and 2 , Panel Massive Sequencing (NGS) JAG1, NOTCH2 Genes

Reference Laboratory Genetics
Spain
22
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 85

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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