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HPRT1 gene analysis using MLPA - Lesch Nyhan syndrome
Regular price €455,00 EURRegular priceUnit price perSale price €455,00 EURSold out -
HPRT1 gene analysis using Sanger staining - Lesch-Nyhan syndrome
Regular price €690,00 EURRegular priceUnit price perSale price €690,00 EURSold out -
LIDDLE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
5-gene analysis - Loeys-Dietz syndrome
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LOEYS-DIETZ SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
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LUJAN-FRYNS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
DELETIONS-DUPLICATIONS (MLPA) GEN PMS2
Regular price €399,00 EURRegular priceUnit price perSale price €399,00 EURSold out -
DELETIONS-DUPLICATIONS (MLPA) MLH1/MSH2 GENE
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MSH6/EPCAM GENE DELESION-DUPLICATIONS (MLPA)
Regular price €399,00 EURRegular priceUnit price perSale price €399,00 EURSold out -
Exome analysis of 5 genes for Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2 genes)
Regular price €690,00 EURRegular priceUnit price perSale price €690,00 EURSold out -
CAPILLARY MALFORMATION–ARTERIOVENOUS MALFORMATION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MARFAN SYNDROME, THORACIC AORTIC ANEURYSM AND RELATED DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 77 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
FBN1 gene analysis - Marfan syndrome
Regular price From €690,00 EURRegular priceUnit price perSale price From €690,00 EUR -
SÍNDROME DE MARFAN: SECUENCIACIÓN NGS - GenoLife
Regular price €1.185,00 EURRegular priceUnit price perSale price €1.185,00 EUR -
Sanger study of the FBN1 gene point variant
Regular price €255,00 EURRegular priceUnit price perSale price €255,00 EURSold out -
MECKEL SYNDROME / MECKEL-GRUBER / MECKEL-GRUBER-LIKE: CLINICAL EXOME PANEL (Sec. & CNVs) – 20 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MECKEL/MECKEL-GRUBER/MECKEL-GRUBER-LIKE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 20 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MEIER-GORLIN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 6 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MEIER-GORLIN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MELAS SYNDROME: DETECTION OF SPECIFIC MUTATIONS IN THE MTTL1 GENE
Regular price €350,00 EURRegular priceUnit price perSale price €350,00 EUR -
MICRO WARBURG-SJÖ-FLEDELIUS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
MILROY SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
5-gene analysis - Muir-Torres syndrome (using exome sequencing)
Regular price €690,00 EURRegular priceUnit price perSale price €690,00 EURSold out -
Exome panel analysis of 21 genes - Noonan syndrome and other RASopathies
Regular price €990,00 EURRegular priceUnit price perSale price €990,00 EURSold out -
OMENN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
Polycystic ovary syndrome
Regular price €180,00 EURRegular priceUnit price perSale price €180,00 EUR -
FATTY ACID OXIDATION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 47 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
PERRAULT SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
STK11 gene analysis using MLPA - Peutz-Jeghers syndrome
Regular price €585,00 EURRegular priceUnit price perSale price €585,00 EURSold out -
STK11 gene analysis by Sanger sequencing - Peutz-Jeghers syndrome
Regular price €690,00 EURRegular priceUnit price perSale price €690,00 EURSold out -
Sold outPrader-Willi syndrome study
Regular price €395,00 EURRegular priceUnit price perSale price €395,00 EURSold out -
RHABDOID TUMOR PREDISPOSITION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
SHORT QT SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
LONG QT SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 32 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
FAMILIAR CHYLOMICRONEMIA SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
RETT/RETT-LIKE/ANGELMAN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 63 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR



