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Results: 1 to 20 of 47

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • 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
Spain
2612
  • C Sequence analysis of the entire coding region

Expanded RASopathy Panel (14 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2114
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

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 Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • T Targeted variant analysis

BRAF Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
41
  • T Targeted variant analysis

BRAF Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
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

Cardiomyopathy: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
14865
  • C Sequence analysis of the entire coding region

Cardiomyopathy: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
14562
  • D Deletion/duplication analysis

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
10359
  • D Deletion/duplication analysis

Invitae Congenital Heart Disease Panel

Invitae
United States
6942
  • 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 Defects and Heterotaxy Panel

Invitae
United States
12882
  • 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

Results: 1 to 20 of 47

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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