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CHM analysis MLPA duplications/deletions - Choroideremia
Regular price €535,00 EURRegular priceUnit price perSale price €535,00 EURSold out -
CRANIOSYNOSTOSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 100 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
Sold outmyNewborn Newborn Screening
Regular price €695,00 EURRegular priceUnit price perSale price €695,00 EURSold out -
8-gene febrile seizures plus panel using exome
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EURSold out -
Philadelphia chromosome
Regular price €1.700,00 EURRegular priceUnit price perSale price €1.700,00 EUR -
Quantitative Philadelphia chromosome
Regular price €1.700,00 EURRegular priceUnit price perSale price €1.700,00 EUR -
Sold outHIV-1 VIRAL LOAD (REAL TIME) PLASMA
Regular price €130,00 EURRegular priceUnit price perSale price €130,00 EURSold out -
CUTIS LAXA: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes
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Sold outExome sequencing - raw data
Regular price €430,00 EURRegular priceUnit price perSale price €430,00 EURSold out -
CONGENITAL DEFECT OF BILE ACID SYNTHESIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
NEURAL TUBE DEFECTS: CLINICAL EXOME PANEL (Sec. & CNVs) – 84 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
Cerebral Creatine Deficiency: Clinical Exome Panel (Sec. & CNVs) – 3 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
COMBINED PITUITARY HORMONE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
LEUKOCYTE ADHESION DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
CARNITINE PALMITOYLTRANSFERASE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
CYTOCHROME C OXIDASE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 15 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
COENZYME Q10 DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
COENZYME Q10 DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
COAGULATION FACTOR DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 24 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
GLUCOCORTICOID DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
LIPA gene analysis - Lysosomal acid lipase deficiency (using exome sequencing)
Regular price €690,00 EURRegular priceUnit price perSale price €690,00 EURSold out -
PYRUVATE DEHYDROGENASE DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 19 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
PULMONARY SURFACTANT DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
UREA CYCLE DEFICIENCY AND HYPERAMMONEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 85 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MOLYBDENUM COFACTOR DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MITOCHONDRIAL COMPLEX I DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 29 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MITOCHONDRIAL COMPLEX II DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MITOCHONDRIAL COMPLEX III DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MITOCHONDRIAL COMPLEX IV DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 14 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -

MITOCHONDRIAL COMPLEX V DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
COMPLEMENT DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 76 genes
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LIPID METABOLISM DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 63 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
PRIMARY ANTIBODY DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 54 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
SERPINA1 sequencing analysis - alpha-1 antitrypsin deficiency
Regular price €395,00 EURRegular priceUnit price perSale price €395,00 EURSold out -
Sold outDIAMINOOXIDASE (DAO) SERUM ACTIVITY
Regular price €78,00 EURRegular priceUnit price perSale price €78,00 EURSold out






