Clinical and research tests for 616038 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neu-Laxova syndrome 2, 616038, Autosomal recessive; NLS2 (Neu-Laxova syndrome) (PSAT1 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
Neu-Laxova syndrome 2, 616038, Autosomal recessive; NLS2 (Neu-Laxova syndrome) (PSAT1 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
PSAT1 - 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 Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	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
Phosphoserine aminotransferase deficiency, 610992, Autosomal recessive; PSATD (Phosphoserine aminotransferase deficiency) (PSAT1 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
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 Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurotransmitter Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	52	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neu-Laxova syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	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
Microcephaly Asper Biogene Asper Biogene LLC Estonia	111	96	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 20

Results: 1 to 20 of 20