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Results: 1 to 20 of 32 (representing 17 labs)

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

Metaphyseal dysplasia without hypotrichosis - Sanger / Del Dup Comprehensive

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

Metaphyseal dysplasia without hypotrichosis (CHHV) - Deletion/Duplication

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

Metaphyseal dysplasia without hypotrichosis (CHHV) - Sanger Sequencing

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

Metaphyseal dysplasia without hypotrichosis

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

Skeletal Disorders and Joint Problems Sequencing Panel

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RMRP. Complete sequencing

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

RMRP Sequence Analysis (Prenatal Diagnosis)

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

RMRP Sequence Analysis (Familial Mutation/Variant Analysis)

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

RMRP Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
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

SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
2022
  • C Sequence analysis of the entire coding region

METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE (CARTILAGE-HAIR HYPOPLASIA)

Laboratorio de Genetica Clinica SL
Spain
11
  • E Sequence analysis of select exons

Invitae Syndromic Combined Immunodeficiency (CID) Panel

Invitae
United States
5637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CCDC107

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • 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.

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