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Results: 1 to 20 of 45 (representing 19 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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Rasopathies NGS Panel

Health in Code S.L.
Spain
2612
  • C Sequence analysis of the entire coding region

Expanded RASopathy Panel (14 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
2114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LEOPARD syndrome 3

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

Noonan syndrome type 7

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BRAF Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
41
  • T Targeted variant analysis

BRAF Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
41
  • T Targeted variant analysis

BRAF Sequence Analysis

Baylor Genetics
United States
41
  • C Sequence analysis of the entire coding region

Noonan Spectrum Disorders/Rasopathies Sequencing Panel

PreventionGenetics
United States
2115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Heart Disease not including Ciliopathies Panel

Invitae
United States
6640
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2944
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Disease including Ciliopathies Panel

Invitae
United States
10272
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BRAF 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

LEOPARD syndrome

bio.logis Center for Human Genetics
Germany
33
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan Syndrome and related disorders (RASopathies) Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
3011
  • C Sequence analysis of the entire coding region

Noonan Syndrome Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
269
  • C Sequence analysis of the entire coding region

Cardiofaciocutaneous Syndrome Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
124
  • C Sequence analysis of the entire coding region

Basal ganglia calcification Panel

CeGaT GmbH
Germany
5327
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 45

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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