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Results: 1 to 20 of 40

Tests names and labsConditionsGenes and analytesMethods

Coffin-Siris syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
610
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Borjeson-Forssman-Lehmann syndrome

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

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel

PreventionGenetics
United States
3432
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-Linked Intellectual Disability Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Monogenic Obesity Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1738
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
10359
  • D Deletion/duplication analysis

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

Monogenic Obesity Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4933
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Idiopathic Generalized Epilepsy NGS Panel

Fulgent Genetics
United States
106789
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Overgrowth/Macrocephaly Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1414
  • C Sequence analysis of the entire coding region

Borjeson-Forssman-Lehmann syndrome

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

NGS Epilepsy/Seizure Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
96145
  • C Sequence analysis of the entire coding region

Single gene testing PHF6

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

Borjeson-Forssman-Lehmann syndrome (sequence analysis of PHF6 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Congenital Obesity: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
929
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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.

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