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Results: 1 to 20 of 26

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • 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

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 Clinical Diagnostics Lab Fulgent Diagnostics
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

Pituitary Hormone Deficiency, Combined 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

Anophthalmia/Microphthalmia Gene Sequencing

Slavotinek Laboratory University of California, San Francisco
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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