Clinical and research tests for C1866174 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PHGDH - 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 Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neu-Laxova syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neu-Laxova syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Neu-Laxova syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Phosphoglycerate dehydrogenase deficiency, 601815, Autosomal recessive; PHGDHD (3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form) (PHGDH 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
Phosphoglycerate dehydrogenase deficiency, 601815, Autosomal recessive; PHGDHD (3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form) (PHGDH 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
Invitae Metabolic Non-Immune Fetal Hydrops Panel Invitae United States	50	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neu-Laxova syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neu-Laxova syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neu-Laxova syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurotransmitter Disorders Panel Invitae United States	52	44	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.