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Results: 1 to 20 of 32

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

Comprehensive SCID panel

Centogene AG - the Rare Disease Company
Germany
2523
  • C Sequence analysis of the entire coding region

B-positive SCID panel

Centogene AG - the Rare Disease Company
Germany
1615
  • C Sequence analysis of the entire coding region

Cartilage-hair hypoplasia - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cartilage-hair hypoplasia (CHH) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Cartilage-hair hypoplasia (CHH) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID) Panel, Sequencing and Deletion/Duplication, 19 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RMRP Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
31
  • T Targeted variant analysis

RMRP Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
31
  • T Targeted variant analysis

RMRP Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
31
  • C Sequence analysis of the entire coding region

Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Severe Combined Immunodeficiency Panel

Invitae
United States
2818
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

CCDC107

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasias

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
7936
  • C Sequence analysis of the entire coding region

RMRP Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
41
  • C Sequence analysis of the entire coding region

Inheritest Carrier Screen

Integrated Genetics Westborough Integrated Genetics
United States
9287
  • T Targeted variant analysis

Cartilage-Hair Hypoplasia (RMRP)

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

Results: 1 to 20 of 32

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.