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Results: 1 to 20 of 187

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Cardiomyopathy and Arrhythmia Panel

Mayo Clinic Laboratories Mayo Clinic
United States
73105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiomyopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6883
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Heart Disease Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
4448
  • D Deletion/duplication analysis
  • C Sequence analysis 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

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Costello Syndrome (HRAS gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • E Sequence analysis of select exons

Otogenetics Hereditary Cancers

Otogenetics
United States
3639
  • E Sequence analysis of select exons

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

Aortic diseases Panel

Health in Code
Spain
7135
  • C Sequence analysis of the entire coding region

Rasopathies NGS Panel

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

Aortic Valvular Diseases Panel

Health in Code
Spain
6030
  • C Sequence analysis of the entire coding region

COSTELLO SYNDROME

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
11
  • 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

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

HRAS - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 187

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.