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Results: 41 to 59 of 59

Tests names and labsConditionsGenes, analytes, and microbesMethods

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability

Athena Diagnostics Inc
United States
5756
  • 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

Coffin-Siris Syndrome NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2222
  • C Sequence analysis of the entire coding region

BORJESON-FORSSMAN-LEHMANN SYNDROME

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

Borjeson-Forssman-Lehman Syndrome, Sequencing PHF6 Gene

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

Invitae Overgrowth and Macrocephaly Syndromes Panel

Invitae
United States
4320
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Overgrowth/Macrocephaly NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1616
  • C Sequence analysis of the entire coding region

Borjeson-Forssman-Lehmann syndrome

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

Epilepsy/Seizure NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
158165
  • C Sequence analysis of the entire coding region

Single gene testing PHF6

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

PHF6 Single Gene

Fulgent Genetics
United States
11
  • 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

Epileptic syndromes with epilepsy and intellectual disability panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
7450
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Autism NGS Panel

Fulgent Genetics
United States
170106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bardet Biedl Syndrome

Asper Biogene Asper Biogene LLC
Estonia
2425
  • C Sequence analysis of the entire coding region

Borjeson-Forssman-Lehmann syndrome

Center for Human Genetics, Inc
United States
11
  • C Sequence analysis of the entire coding region

Results: 41 to 59 of 59

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.