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Results: 1 to 15 of 15

Tests names and labsConditionsGenes and analytesMethods

Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8–23 Deletion

PreventionGenetics
United States
11
  • T Targeted variant analysis

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection

PreventionGenetics
United States
3342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fraser Syndrome Sequencing Panel

PreventionGenetics
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
6626
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
4023
  • D Deletion/duplication analysis

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Anophthalmia/microphthalmia

Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
Denmark
1129
  • C Sequence analysis of the entire coding region

Single gene testing FREM1

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Craniosynostosis syndromes Panel

CeGaT GmbH
Germany
2020
  • C Sequence analysis of the entire coding region

MOTA syndrome (sequence analysis of FREM1 gene)

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

FREM1

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
321207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
4023
  • C Sequence analysis of the entire coding region

Fraser syndrome panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
44
  • C Sequence analysis of the entire coding region

FREM1 Sequence Analysis

Slavotinek Laboratory University of California, San Francisco
United States
21
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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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