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Results: 1 to 20 of 26 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Microphthalmia syndromic type 2

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

Microphthalmia panel

Centogene AG - the Rare Disease Company
Germany
113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PAX6 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
21
  • D Deletion/duplication analysis
  • 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

Septo-optic dysplasia

Molecular Vision Laboratory
United States
124
  • C Sequence analysis of the entire coding region

OTX2 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
31
  • C Sequence analysis of the entire coding region

Invitae Microphthalmia/Anophthalmia Disorders Panel

Invitae
United States
74
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Cataracts Panel

Invitae
United States
4737
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Aniridia Test

Invitae
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ALDH1A3

Fulgent Genetics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short Stature, autosomal recessive, NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
108
  • C Sequence analysis of the entire coding region

NHS Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
31
  • C Sequence analysis of the entire coding region

Combined Pituitary Hormone Deficiency NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
76
  • C Sequence analysis of the entire coding region

Isolated Growth Hormone Deficiency NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
1410
  • C Sequence analysis of the entire coding region

Microphthalmia (NGS panel for 26 genes)

CGC Genetics
Portugal
126
  • C Sequence analysis of the entire coding region

Microphthalmy Panel

CeGaT GmbH
Germany
1326
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

Congenital Cataract, Autosomal Recessive NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
2015
  • C Sequence analysis of the entire coding region

SOX2

Medizinisch Genetisches Zentrum München MGZ München
Germany
21
  • C Sequence analysis of the entire coding region

OTX2

Medizinisch Genetisches Zentrum München MGZ München
Germany
31
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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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