- Clinical exome sequencing
- 1 250 eur
Custom analysis of a human gene
- one exon
- 176 eur
Alpha-1 Antitrypsin Deficiency
- Detection of S and Z mutations in A1AT
- 186 eur
Epidermolysis bullosa
- Molecular diagnosis of dystrophic epidermolysis bullosa (c.425A>G in COL7A1)
- 176 eur
Cystic fibrosis
- Detection of F508del CFTR mutation*
- 127 eur
- Detection of the 7 most common CFTR mutations*
- 294 eur
- Prenatal detection of cystic fibrosis*
- 186 eur
- Screening of the CFTR gene 2* (exons: 2,6b,8,14b,16,17a,18, 22,23,24)
- 931 eur
- Screening of the CFTR gene 1* (exons: 1,3,4,5,6a,7,9,10, 11,12,13,14a,15,17b,19,20,21)
- 1323 eur
Cytochrome c oxidase deficiency
- Molecular diagnosis of cytochrome c oxidase deficiency (p.Glu140Lys in SCO2 gene)
- 176 eur
Fumarase deficiency / Reed’s syndrome
- Molecular diagnosis of fumarase deficiency / Reed’s syndrome
- 412 eur
- Molecular diagnosis of fumarase deficiency / Reed’s syndrome in a blood relative
- 176 eur
Tyrosine hydroxylase deficiency
- Molecular diagnosis of tyrosine hydroxylase deficiency
- 500 eur
- Molecular diagnosis of tyrosine hydroxylase deficiency in a blood relative
- 176 eur
Molecular diagnosis of familial Mediterranean fever
- Molecular diagnosis of familial Mediterranean fever
- 176 eur
Phenylketonuria
- Detection of mutations in the PAH gene
- 412 eur
Glycogen storage diseases
- Molecular diagnosis of glycogen storage disease type I
- 500 eur
- Molecular diagnosis of glycogen storage disease type Ia
- 244 eur
- Molecular diagnosis of glycogen storage disease type Ib
- 294 eur
- Molecular diagnosis of glycogen storage disease type I in a blood relative
- 176 eur
Gaucher disease
- Molecular diagnosis of Gaucher disease
- 412 eur
- Molecular diagnosis of Gaucher disease in a blood relative
- 176 eur
Congenital adrenal hyperplasia
- Detection of mutations, conversions and large deletions of the CYP21A2 gene
- 353 eur
- Detection of mutations in the CYP21A2 gene - in the family member
- 176 eur
MSUD (Maple syrup urine disease)
- Molecular diagnosis of MSUD (Maple syrup urine disease)
- 588 eur RSD
- Molecular diagnosis of MSUD (Maple syrup urine disease) - BCKDHA gene
- 30.000,00 RSD
- Molecular diagnosis of MSUD (Maple syrup urine disease) - BCKDHB gene
- 382 eur
- Molecular diagnosis of MSUD (Maple syrup urine disease) in a blood relative
- 176 eur
Thalassemia
- Detection of mutations in β- globin genes
- 235 eur
- Detection of mutations in α- globin genes*
- 235 eur
- Detection of mutations in α- and β- globin genes in the family member*
- 176 eur
- Prenatal detection of thalassemia syndromes*
- 176 eur
Shwachman-Diamond syndrome
- Molecular diagnosis of Shwachman-Diamond syndrome
- 235 eur
Gilbert's syndrome
- Analysis of variants of UGT1A1*28significant as a diagnostic marker in Gilbert 's syndrome and pharmacogenetic marker during irinotecan therapy
- 176 eur
