Clinical and research tests for C1855840 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) BloodGenetics Spain	39	33	C Sequence analysis of the entire coding region
TBCE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	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 Hypoparathyroidism Panel Invitae United States	41	18	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Hypoparathyroidism-retardation-dysmorphism syndrome, 241410, Autosomal recessive; HRDS (Sanjad-Sakati syndrome) (TBCE 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
Hypoparathyroidism-retardation-dysmorphism syndrome, 241410, Autosomal recessive; HRDS (Sanjad-Sakati syndrome) (TBCE 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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kenny-Caffey Syndrome Type 1 via the TBCE Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoparathyroidism Panel PreventionGenetics, part of Exact Sciences United States	15	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Kenny-Caffey Syndrome Panel PreventionGenetics, part of Exact Sciences United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain	197	128	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	C Sequence analysis of the entire coding region
Hypoparathyroidism-retardation-dysmorphism syndrome Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
Sanjad-Sakati Syndrome, Sequencing TBCE Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Hypoparathyroidism panel Genetic Services Laboratory University of Chicago United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystonia Asper Biogene Asper Biogene LLC Estonia	39	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sanjad-Sakati syndrome Bioarray Spain	1	1	C Sequence analysis of the entire coding region
TBCE Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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