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Results: 1 to 18 of 18

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

CEP135 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4838
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Microcephaly 8, primary, autosomal recessive, 614673, Autosomal recessive; MCPH8 (Autosomal recessive primary microcephaly) (CEP135 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

Microcephaly 8, primary, autosomal recessive, 614673, Autosomal recessive; MCPH8 (Autosomal recessive primary microcephaly) (CEP135 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

Primary Microcephaly, Autosomal Recessive, Panel

PreventionGenetics, part of Exact Sciences
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephaly Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
6748
  • C Sequence analysis of the entire coding region

Microcephaly, primary autosomal recessive: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2525
  • C Sequence analysis of the entire coding region

PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY)

Laboratorio de Genetica Clinica SL
Spain
1313
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

CEP135 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
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly NGS Panel

Fulgent Genetics
United States
32275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.