Clinical and research tests for C3887525 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MBTPS2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Ichthyosis Panel Invitae United States	77	45	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Keratosis follicularis spinulosa decalvans, X-linked, 308800, X-linked recessive; KFSDX (Keratosis follicularis spinulosa decalvans) (MBTPS2 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
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (Keratosis follicularis spinulosa decalvans) (MBTPS2 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 Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta panel. 28-gene NGS panel. Genologica Medica Spain	48	27	C Sequence analysis of the entire coding region
Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain	58	31	C Sequence analysis of the entire coding region
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain	62	25	C Sequence analysis of the entire coding region
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	136	90	C Sequence analysis of the entire coding region
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	210	139	C Sequence analysis of the entire coding region
Ichthyosis Asper Biogene Asper Biogene LLC Estonia	67	47	C Sequence analysis of the entire coding region
MBTPS2 Institute for Human Genetics University Medical Center Freiburg Germany	4	1	C Sequence analysis of the entire coding region
Osteogenesis Imperfecta Asper Biogene Asper Biogene LLC Estonia	80	41	C Sequence analysis of the entire coding region
Keratosis Follicularis Spinulosa Decalvans , Sequencing SAT1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Keratosis Follicularis Spinulosa Decalvans, Sequencing MBTPS2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
MBTPS2 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis

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