Clinical and research tests for C0796089 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
qChip 1M Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k post-natal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 400 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
RELN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypogonadotropic Hypogonadism Panel Invitae United States	67	46	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly Panel PreventionGenetics, part of Exact Sciences United States	29	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly 2 (Norman-Roberts type), 257320, Autosomal recessive; LIS2 (Lissencephaly syndrome, Norman-Roberts type) (RELN 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
Lissencephaly 2 (Norman-Roberts type), 257320, Autosomal recessive; LIS2 (Lissencephaly syndrome, Norman-Roberts type) (RELN 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
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Brain Malformation Panel PreventionGenetics, part of Exact Sciences United States	79	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly core NGS test HNL Genomics Connective Tissue Gene Tests United States	11	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly core Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	11	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly core Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	11	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly and related disorders Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly and related disorders Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly and related disorders NGS test HNL Genomics Connective Tissue Gene Tests United States	46	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.