Clinical and research tests for C1846582 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
PANK2 - 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 Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HARP syndrome, 607236, Autosomal recessive (HARP syndrome) (PANK2 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
HARP syndrome, 607236, Autosomal recessive (HARP syndrome) (PANK2 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
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis 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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Invitae Dystonia Comprehensive Panel Invitae United States	61	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PANK2 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region
Ciliary dyskinesia and heterotaxia. NGS panel of 40 genes. Genologica Medica Spain	49	40	C Sequence analysis of the entire coding region
Nöronal Ceroid Lipofuscinosis (NCL) Genetic Panel Duzen Laboratories Duzen BBAGUAS Turkey	16	15	C Sequence analysis of the entire coding region
Dystonia and Parkinsonism Panel GeneDx United States	20	73	D Deletion/duplication analysis 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
Pantothenate Kinase-Associated Neurodegeneration (PANK2 Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis 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.