ENG Department of Clinical Genetics Odense University Hospital
Denmark | 1 | 1 | - D Deletion/duplication analysis
- E Sequence analysis of select exons
- C Sequence analysis of the entire coding region
|
CentoMetabolic MOx Centogene AG - the Rare Disease Company
Germany | 195 | 221 | - A Analyte
- D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
UROD - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
HFE - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 6 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoIEM Panel Centogene AG - the Rare Disease Company
Germany | 669 | 688 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoICU Panel Centogene AG - the Rare Disease Company
Germany | 829 | 848 | - C Sequence analysis of the entire coding region
|
CentoSkin Panel Centogene AG - the Rare Disease Company
Germany | 157 | 151 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Iron Related Disorders Panel Invitae
United States | 39 | 27 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Comprehensive Porphyrias Panel Invitae
United States | 15 | 10 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Porphyria cutanea tarda, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (UROD 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
|
Porphyria cutanea tarda, susceptibility to, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Porphyria cutanea tarda, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Porphyria cutanea tarda, susceptibility to, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (HFE 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
|
Porphyria, hepatoerythropoietic, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Porphyria cutanea tarda, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (UROD 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
|
Porphyria cutanea tarda, susceptibility to, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (HFE 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
|
Porphyria cutanea tarda, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Porphyria cutanea tarda, susceptibility to, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Porphyria, hepatoerythropoietic, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (UROD 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
|
Porphyria, hepatoerythropoietic, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (UROD 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
|
