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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel

Invitae
United States
4838
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Microcephalic primordial dwarfism Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephalic primordial dwarfism NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephalic primordial dwarfism Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Seckel syndrome 7, 614851, Autosomal recessive; SCKL7 (Microcephalic primordial dwarfism, Dauber type) (NIN gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Seckel syndrome 7, 614851, Autosomal recessive; SCKL7 (Microcephalic primordial dwarfism, Dauber type) (NIN gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Microcephalic primordial dwarfism NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephalic primordial dwarfism Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephalic primordial dwarfism Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NIN

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Seckel syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
99
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

Microcephaly

Asper Biogene Asper Biogene LLC
Estonia
11196
  • C Sequence analysis of the entire coding region

Seckel Syndrome

Institute of Human Genetics Cologne University
Germany
98
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.