Clinical and research tests for C1313961 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MPLKIP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	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 Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Trichothiodystrophy 4, nonphotosensitive, 234050, Autosomal recessive; TTD4 (BIDS syndrome) (MPLKIP 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
Trichothiodystrophy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Trichothiodystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Trichothiodystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	6	6	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
Trichothiodystrophy, nonphotosensitive 1 (sequence analysis of MPLKIP gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain	60	23	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
MPLKIP gene sequencing Duzen Laboratories Duzen BBAGUAS Turkey	1	1	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
MPLKIP Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Trichothiodystrophy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	6	C Sequence analysis of the entire coding region
Ichthyosis NGS Panel Fulgent Genetics United States	98	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain	5	5	C Sequence analysis of the entire coding region
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Reference Laboratory Genetics Spain	35	33	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.