-
Rett syndrome
Regular price €660,00 EURRegular priceUnit price perSale price €660,00 EUR -
MECP2 gene analysis by Sanger sequencing - Rett syndrome
Regular price €690,00 EURRegular priceUnit price perSale price €690,00 EURSold out -
ROBINOW SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 10 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
ROBINOW SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
ROTOR SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
RUBINSTEIN-TAYBI SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
SECKEL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 12 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
SECKEL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 12 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
SENIOR-LØKEN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 11 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
SOTOS SYNDROME AND RELATED SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
Sold out10-gene analysis - Stickler syndrome
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EURSold out -
STICKLER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
Sturge-Weber syndrome (GNAQ gene)
Regular price €600,00 EURRegular priceUnit price perSale price €600,00 EUR -
SÍNDROME DE STURGE-WEBER-KRABBE: SECUENCIACIÓN DEL GEN GNAQ (NGS-Sec) – ATG Medical
Regular price €600,00 EURRegular priceUnit price perSale price €600,00 EUR -
GNAQ GENE SEQUENCING - STURGE-WEBER SYNDROME
Regular price €690,00 EURRegular priceUnit price perSale price €690,00 EURSold out -
c12orf57 sequencing analysis - Temtamy syndrome
Regular price €495,00 EURRegular priceUnit price perSale price €495,00 EURSold out -
TREACHER COLLINS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 8 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
Analysis of 14 genes - Usher syndrome (using exome sequencing)
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EURSold out -
USHER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 25 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
VHL analysis by Sanger sequencing - Von Hippel-Lindau syndrome
Regular price €690,00 EURRegular priceUnit price perSale price €690,00 EURSold out -
WAARDENBURG SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
WALKER-WARBURG SYNDROME AND DYSTROGLYCANOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 22 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
ZELLWEGER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 14 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
ATYPICAL HEMOLYTIC UREMIC SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 35 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
HYPEREOSINOPHILIC SYNDROME – Targeted sequencing of the JAK2 gene
Regular price €350,00 EURRegular priceUnit price perSale price €350,00 EUR -
IRIDA SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 38 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
CONGENITAL MYASTHENIC SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 30 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
NEPHROTIC SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 102 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
OROFACIODIGITAL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 15 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
TRICH-HEPATO-ENTERIC SYNDROME (SYNDROME DIARRHEA): CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
Analysis of FMR1 gene triplet expansion - fragile X syndrome
Regular price From €275,00 EURRegular priceUnit price perSale price From €275,00 EUR -
Fragile X CGG expansion detection
Regular price €1.032,00 EURRegular priceUnit price perSale price €1.032,00 EUR -
AUTOINFLAMMATORY SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 112 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR -
Exome analysis of 47 genes associated with autoinflammatory syndromes
Regular price €990,00 EURRegular priceUnit price perSale price €990,00 EURSold out -
GLOBAL DYSMORPHIC SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) - 687 genes
Regular price €850,00 EURRegular priceUnit price perSale price €850,00 EUR





