Clinical and research tests for C0011195 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Charcot Marie Tooth Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	46	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
PMP22 - MLPA Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis
PMP22 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	6	1	C Sequence analysis of the entire coding region
EGR2 - 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
MPZ - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRX - 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 Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (PMP22 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
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (PMP22 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
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (PRX 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
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (PRX 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
Dejerine-Sottas disease, 145900, Autosomal recessive, Autosomal dominant (Dejerine-Sottas syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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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.