Clinical and research tests for C4310723 - Genetic Testing Registry (GTR)

Results: 1 to 14 of 14

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microcephaly Panel Genetic Services Laboratory University of Chicago United States	72	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CIT - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	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	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Microcephaly 17, primary, autosomal recessive, 617090, Autosomal recessive; MCPH17 (Autosomal recessive primary microcephaly) (CIT gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Microcephaly 17, primary, autosomal recessive, 617090, Autosomal recessive; MCPH17 (Autosomal recessive primary microcephaly) (CIT gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Primary Microcephaly, Autosomal Recessive, Panel PreventionGenetics United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States	37	131	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly, primary autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	25	25	C Sequence analysis of the entire coding region
Brain malformations Asper Biogene Asper Biogene LLC Estonia	318	252	C Sequence analysis of the entire coding region
Comprehensive Brain Malformation Panel Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	36	106	C Sequence analysis of the entire coding region
Microcephaly Asper Biogene Asper Biogene LLC Estonia	111	96	C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.

Filters

Test type

Test purpose

Test method

Molecular Genetics

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 1 to 14 of 14

Results: 1 to 14 of 14