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Results: 1 to 20 of 48 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

Oral-facial-digital syndrome

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Orofaciodigital syndrome I - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Orofaciodigital syndrome I (OFD1) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Oral-facial-digital syndrome type 1

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

OFD1 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

OFD1 sequencing

Genetic Services Laboratory University of Chicago
United States
31
  • C Sequence analysis of the entire coding region

KidneySeq: A Comprehensive Inherited Kidney Disease Panel

Iowa Institute of Human Genetics University of Iowa
United States
124147
  • 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

OFD1 -Related Disorders via the OFD1 Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Ciliary Dyskinesia with CFTR Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3734
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Ciliary Dyskinesia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3333
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5430
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked RP Panel

Molecular Vision Laboratory
United States
115
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

Molecular Vision Laboratory
United States
5025
  • C Sequence analysis of the entire coding region

Ciliopathies

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
44116
  • 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

Invitae Congenital Heart Disease including Ciliopathies Panel

Invitae
United States
10272
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • C Sequence analysis of the entire coding region

OFD1 Select Exons Sequencing

GeneDx
United States
11
  • E Sequence analysis of select exons

Results: 1 to 20 of 48

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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