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Results: 21 to 40 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

Axenfeld-Rieger Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1410
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Peters Plus Syndrome via the B3GALTL/B3GLCT Gene

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

Panel of congenital disorders of glycosylation. NGS panel of 47 genes.

Genologica Medica
Spain
5547
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycolysation

Asper Biogene Asper Biogene LLC
Estonia
5349
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peters Plus Syndrome (B3GLCT Single Gene Test)

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

PETERS PLUS SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • X Mutation scanning of select exons
  • 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 Biogene Asper Biogene LLC
Estonia
367291
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

Asper Biogene Asper Biogene LLC
Estonia
3735
  • C Sequence analysis of the entire coding region

Anterior segment defects

Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet
Denmark
1213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Axenfeld-Rieger syndrome

Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet
Denmark
57
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal/Ambiguous Genitalia Panel

Genetic Services Laboratory University of Chicago
United States
8192
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Genetic Services Laboratory University of Chicago
United States
2733
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peters-plus syndrome

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

Developmental Eye Disease panel

Molecular Vision Laboratory
United States
10759
  • C Sequence analysis of the entire coding region

B3GALTL

MGZ Medical Genetics Center
Germany
11
  • C Sequence analysis of the entire coding region

B3GLCT 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

Congenital Disorders of Glycosylation NGS Panel

Fulgent Genetics
United States
4339
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 43

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.