Lipodystrophy Gene Panel Mayo Clinic Laboratories Mayo Clinic
United States | 23 | 12 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CAV1 - 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
|
CentoNeuro Panel Centogene AG - the Rare Disease Company
Germany | 1886 | 1858 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Epilepsy Panel Centogene AG - the Rare Disease Company
Germany | 734 | 744 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
CentoIEM Panel Centogene AG - the Rare Disease Company
Germany | 669 | 688 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Neuromuscular Panel Centogene AG - the Rare Disease Company
Germany | 325 | 316 | - D Deletion/duplication analysis
- X Mutation scanning of select exons
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Pulmonary Panel Centogene AG - the Rare Disease Company
Germany | 99 | 101 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
CentoICU Panel Centogene AG - the Rare Disease Company
Germany | 829 | 848 | - C Sequence analysis of the entire coding region
|
Lipodystrophy, congenital generalized, type 3, 612526; CGL3 (Berardinelli-Seip congenital lipodystrophy) (CAV1 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
|
Lipodystrophy, congenital generalized, type 3, 612526; CGL3 (Berardinelli-Seip congenital lipodystrophy) (CAV1 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
|
Pulmonary hypertension, primary, 3, 615343, Autosomal dominant; PPH3 (Idiopathic and/or familial pulmonary arterial hypertension) (CAV1 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
|
Pulmonary hypertension, primary, 3, 615343, Autosomal dominant; PPH3 (Idiopathic and/or familial pulmonary arterial hypertension) (CAV1 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
|
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721, Autosomal dominant (CAV1 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
|
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721, Autosomal dominant (CAV1 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
|
Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences
United States | 57 | 29 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Familial Partial Lipodystrophy (FPLD) Panel PreventionGenetics, part of Exact Sciences
United States | 29 | 16 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Pulmonary Arterial Hypertension (PAH) Panel PreventionGenetics, part of Exact Sciences
United States | 10 | 11 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL
Spain | 3 | 1969 | - S Mutation scanning of the entire coding region
- C Sequence analysis of the entire coding region
|
Invitae Genetic Health Screen Invitae
United States | 409 | 164 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Cardio Screen Invitae
United States | 208 | 81 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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