CentoCardio Panel Centogene AG - the Rare Disease Company Germany | 289 | 275 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae eMERGE Panel Invitae United States | 59 | 16 | - D Deletion/duplication analysis
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Invitae Hypoglycemia Panel Invitae United States | 173 | 119 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae Comprehensive Lipidemia Panel Invitae United States | 33 | 25 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 | - D Deletion/duplication analysis
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Apolipoprotein A-II deficiency (Homozygous familial hypercholesterolemia) (APOA2 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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Hypercholesterolemia, familial, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (LDLR 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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Hypercholesterolemia, familial, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - D Deletion/duplication analysis
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Hypercholesterolemia, familial, due to LDLR defect, modifier of, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (EPHX2 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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Hypercholesterolemia, familial, modifier of, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (GHR 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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Hypercholesterolemia, susceptibility to, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (ITIH4 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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Hypercholesterolemia, susceptibility to, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (PPP1R17 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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Hypercholesterolemia, familial, modifier of, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (APOA2 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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LDL cholesterol level QTL2, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - D Deletion/duplication analysis
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LDL cholesterol level QTL2, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (LDLR 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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Tangier disease, 205400, Autosomal recessive; TGD (Tangier disease) (ABCA1 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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Coronary artery disease in familial hypercholesterolemia, protection against, 143890, Autosomal dominant (Homozygous familial hypercholesterolemia) (ABCA1 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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Invitae Genetic Health Screen Invitae United States | 409 | 164 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae Cardio Screen Invitae United States | 208 | 81 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae 78 Gene Actionable Disorders Panel Invitae United States | 220 | 75 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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