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Results: 1 to 20 of 32 (representing 19 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

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

Peters-Plus syndrome

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

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
88
  • C Sequence analysis of the entire coding region

Peters Plus Syndrome via the B3GALTL/B3GLCT Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

B3GALTL. Detection of the mutation c.660 1G>A by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

B3GALTL. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Peters-Plus Syndrome, Screening Mutations B3GALTL Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Eye diseases comprehensive panel

Asper Biotech Asper Biotech Ltd.
Estonia
351275
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

Asper Biotech Asper Biotech Ltd.
Estonia
3432
  • C Sequence analysis of the entire coding region

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
5649
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypospadias Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
7361
  • C Sequence analysis of the entire coding region

Congenital disorder of O-linked glycosylation (CDG)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3929
  • C Sequence analysis of the entire coding region

Anterior segment defects

Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
Denmark
1213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Axenfeld-Rieger syndrome

Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
Denmark
57
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal/Ambiguous Genitalia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
8272
  • C Sequence analysis of the entire coding region

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2926
  • C Sequence analysis of the entire coding region

Peters-plus syndrome

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

Peters-plus syndrome (frequent mutations of B3GALTL gene)

CGC Genetics
Portugal
11
  • S Mutation scanning of the entire coding region

Developmental Eye Disease panel

Molecular Vision Laboratory
United States
10959
  • C Sequence analysis of the entire coding region

B3GALTL

Medizinisch Genetisches Zentrum München MGZ München
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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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