Clinical and research tests for C0265227 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Schinzel-giedion syndrome testing (SETBP1) Genetic Services Laboratory University of Chicago United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SETBP1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SETBP1 - 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 Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Inherited Bone Marrow Failure Panel PreventionGenetics United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Schinzel-Giedion midface retraction syndrome, 269150, Autosomal dominant (Schinzel-Giedion syndrome) (SETBP1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Schinzel-Giedion midface retraction syndrome, 269150, Autosomal dominant (Schinzel-Giedion syndrome) (SETBP1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Hypospadias Panel PreventionGenetics United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ambiguous Genitalia Panel PreventionGenetics United States	128	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) Panel PreventionGenetics United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Epilepsy Panel Invitae United States	442	298	D Deletion/duplication analysis
SETBP1. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
Myeloproliferative / myelodysplastic syndrome [detection of somatic mutations: JAK2 (V617F and exon 12), CALR (exon 9) , MPL (exon 10), ASXL1 (exon 13), CBL (exons 8 and 9), CSF3R (exons 14 – 17), DNMT3A (whole coding region), ETNK1 (exon 3), EZH2 (whole Unilabs Genetics CGC Genetics Portugal	20	15	C Sequence analysis of the entire coding region
Autism (WES based NGS panel of 154 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	181	154	C Sequence analysis of the entire coding region
Schinzel-Giedion syndrome (sequence analysis of SETBP1 gene) Unilabs Genetics CGC Genetics Portugal	2	1	C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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