Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMA3 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, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMB3 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, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMA3 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, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMC2 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, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMB3 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, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMC2 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, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
CentoScreen Centogene AG - the Rare Disease Company
Germany | 316 | 314 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
LAMB3 - 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
|
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company
Germany | 75 | 76 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoDysmorph Panel Centogene AG - the Rare Disease Company
Germany | 740 | 728 | - 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 Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 95 | 45 | - D Deletion/duplication analysis
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp
United States | 886 | 547 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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