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Results: 1 to 20 of 156

Tests names and labsConditionsGenes, analytes, and microbesMethods

Noonan Syndrome and Related Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1520
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RASopathy NGS Panel

Medical Genomics Laboratory Department of Genetics UAB
United States
818
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Non-NF1 RASopathy NGS Panel

Medical Genomics Laboratory Department of Genetics UAB
United States
717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rasopathies NGS Panel

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

NOONAN SYNDROME

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
516
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

RASOPATHY-RELATED SYNDROME

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
919
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR

PathGroup
United States
16160
  • T Targeted variant analysis

UCSF Molecular Diagnostics Laboratory

UCSF Molecular Diagnostics Laboratory University of California, San Francisco
United States
452
  • C Sequence analysis of the entire coding region

CentoCancer

Centogene AG - the Rare Disease Company
Germany
11368
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
155107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

Myeloid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
7434
  • C Sequence analysis of the entire coding region

NF1 - MLPA

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis

NF1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PTPN11 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 156

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.