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Results: 41 to 60 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

Intellectual Disability X-linked Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13690
  • C Sequence analysis of the entire coding region

Intellectual Disability & Autism Spectrum Disorders Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
210139
  • C Sequence analysis of the entire coding region

HPRT1 Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lesch-Nyhan Syndrome (HPRT1 Single Gene Test)

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Purine and Pyrimidine Metabolism Disorders Panel

Blueprint Genetics
Finland
1521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes

Reference Laboratory Genetics
Spain
8577
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders

Athena Diagnostics Inc
United States
3031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
233234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LESCH-NYHAN SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Lesch-Nyhan Syndrome, Deletions-Duplications (MLPA) HPRT1 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Lesch-Nyhan Syndrome, Sequencing HPRT1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Lesch-Nyhan syndrome

Institute of Human Genetics Cologne University
Germany
11
  • C Sequence analysis of the entire coding region

Hypoxanthine Phosphoribosyl Transferase

Biochemical Genetics Laboratory University of California San Diego
United States
11
  • E Enzyme assay

Lesch-Nyhan syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

Lesch-Nyhan syndrome

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
11
  • C Sequence analysis of the entire coding region

HPRT1 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID (X-Linked Intellectual Disability) NGS Panel

Fulgent Genetics
United States
162117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 64

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.