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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Pulmonary hypertension Panel Health in Code
Spain | 1 | 16 | - C Sequence analysis of the entire coding region
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Dyslipidemias / Early atherosclerosis Health in Code
Spain | 1 | 84 | - C Sequence analysis of the entire coding region
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Cardiovascular Diseases_General Panel Health in Code
Spain | 1 | 380 | - C Sequence analysis of the entire coding region
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Mixed hyperlipidemias Health in Code
Spain | 11 | 13 | - C Sequence analysis of the entire coding region
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Pulmonary Hypertension Panel Health in Code
Spain | 1 | 12 | - C Sequence analysis of the entire coding region
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Inherited Cardiovascular Diseases and Sudden Death Panel Health in Code
Spain | 1 | 213 | - 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
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CentoNeuro Panel Centogene AG - the Rare Disease Company
Germany | 1886 | 1858 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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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
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CentoIEM Panel Centogene AG - the Rare Disease Company
Germany | 669 | 688 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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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
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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
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CentoICU Panel Centogene AG - the Rare Disease Company
Germany | 829 | 848 | - C Sequence analysis of the entire coding region
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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
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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
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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
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