Clinical and research tests for 1294 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 120

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (COL7A1 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
Epidermolysis bullosa dystrophica, AD, 131750, Autosomal dominant (Generalized dominant dystrophic epidermolysis bullosa) (COL7A1 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
Epidermolysis bullosa, pretibial, 131850, Autosomal recessive, Autosomal dominant (Pretibial dystrophic epidermolysis bullosa) (COL7A1 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
Epidermolysis bullosa, pretibial, 131850, Autosomal recessive, Autosomal dominant (Pretibial dystrophic epidermolysis bullosa) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, pretibial, 131850, Autosomal recessive, Autosomal dominant (Pretibial dystrophic epidermolysis bullosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, pretibial, 131850, Autosomal recessive, Autosomal dominant (Pretibial dystrophic epidermolysis bullosa) (COL7A1 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
Toenail dystrophy, isolated, 607523, Autosomal dominant (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Toenail dystrophy, isolated, 607523, Autosomal dominant (COL7A1 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
Epidermolysis bullosa dystrophica, Bart type, 132000, Autosomal dominant (COL7A1 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
Epidermolysis bullosa dystrophica, localisata variant (Generalized dominant dystrophic epidermolysis bullosa) (COL7A1 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
Epidermolysis bullosa dystrophica, localisata variant (Generalized dominant dystrophic epidermolysis bullosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica inversa, 226600, Autosomal recessive (Recessive dystrophic epidermolysis bullosa inversa) (COL7A1 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
Epidermolysis bullosa dystrophica, localisata variant (Generalized dominant dystrophic epidermolysis bullosa) (COL7A1 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
Epidermolysis bullosa dystrophica, Bart type, 132000, Autosomal dominant (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica, Bart type, 132000, Autosomal dominant (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica, localisata variant (Generalized dominant dystrophic epidermolysis bullosa) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica inversa, 226600, Autosomal recessive (Recessive dystrophic epidermolysis bullosa inversa) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa dystrophica, Bart type, 132000, Autosomal dominant (COL7A1 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

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Results: 21 to 40 of 120

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.