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Results: 1 to 20 of 172

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hyperoxaluria, primary, type III (deletion/duplication on HOGA1 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

NGS RASopathy Panel

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
914
  • C Sequence analysis of the entire coding region

NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication

Medical Genomics Laboratory Department of Genetics UAB
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SPRED1 Gene Legius syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

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

Tempus xT

Tempus Labs, Inc.
United States
2647
  • I Microsatellite instability testing (MSI)
  • 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 Panel

Health in Code
Spain
118
  • C Sequence analysis of the entire coding region

Cardiomyopathies General Panel

Health in Code
Spain
1173
  • C Sequence analysis of the entire coding region

Arrhythmia General Panel

Health in Code
Spain
1218
  • C Sequence analysis of the entire coding region

Cardiovascular Diseases_General Panel

Health in Code
Spain
1380
  • C Sequence analysis of the entire coding region

Rasopathies NGS Panel

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

Cardiomyopathies Panel

Health in Code
Spain
1149
  • C Sequence analysis of the entire coding region

Inherited Cardiovascular Diseases and Sudden Death Panel

Health in Code
Spain
1213
  • 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

NEUROFIBROMATOSIS TYPE 1 - NF1 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
22
  • D Deletion/duplication analysis
  • L Linkage analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

LEGIUS SYNDROME - SPRED1 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
22
  • D Deletion/duplication analysis
  • L Linkage analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

SPRED1 - NGS including CNV analysis

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

Results: 1 to 20 of 172

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.