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BARTTER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 56 genes
Regular price €850,00 EURRegular priceUnit price per -
SÍNDROME DE BECKWITH-WIEDEMANN: DELECCIONES/DUPLICACIONES + MLPA REGIÓN 11p15 (ALTERACIONES DE METILACIÓN y CNVs) – ATG Medical
Regular price From €600,00 EURRegular priceUnit price per -
Analysis of 23 genes - Brugada Syndrome
Regular price €990,00 EURRegular priceUnit price per -
BRUGADA SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 26 genes
Regular price €850,00 EURRegular priceUnit price per -
NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN SYNDROME): CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
Regular price €850,00 EURRegular priceUnit price per -
COCKAYNE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
Regular price €850,00 EURRegular priceUnit price per -
COFFIN-SIRIS / COFFIN-SIRIS-LIKE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 24 genes
Regular price €850,00 EURRegular priceUnit price per -
FRAGILE CORNEAL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price per -
CORNELIA DE LANGE SYNDROME AND RELATED DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 38 genes
Regular price €850,00 EURRegular priceUnit price per -
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes
Regular price €850,00 EURRegular priceUnit price per -
MITOCHONDRIAL DNA DEPLETION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 27 genes
Regular price €850,00 EURRegular priceUnit price per -
DUBOWITZ SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price per -
Family study of COL gene point variant. Buccal swab / Saliva3 by Sanger
Regular price €255,00 EURRegular priceUnit price per -
Family study of COL5A2 point variant gene by Sanger
Regular price €255,00 EURRegular priceUnit price per -
EHLERS-DANLOS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 61 genes
Regular price €850,00 EURRegular priceUnit price per -
Family study of COL5 gene point variant. Buccal swab/saliva by Sanger
Regular price €255,00 EURRegular priceUnit price per -
ELLIS-VAN CREVELD SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 2 genes
Regular price €850,00 EURRegular priceUnit price per -
FRASER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
Regular price €850,00 EURRegular priceUnit price per -
Study of the UGT gene polymorphism in Sanger - Gilbert syndrome. Ancestry, Kinship, Longevity and Forensic Testing1
Regular price €255,00 EURRegular priceUnit price per -
GITELMAN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Regular price €850,00 EURRegular priceUnit price per -
HERMANSKY-PUDLAK SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 28 genes
Regular price €850,00 EURRegular priceUnit price per -
HYPER IgM SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 11 genes
Regular price €850,00 EURRegular priceUnit price per -
HYPERPHOSPHATASIS SYNDROME - INTELLECTUAL DISABILITY: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
Regular price €850,00 EURRegular priceUnit price per -
HYPERPHOSPHATASIS-INTELLECTUAL DISABILITY SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
Regular price €850,00 EURRegular priceUnit price per -
HYPERIMMUNOGLOBULINEMIA SYNDROME (HYPER IgE): CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
Regular price €850,00 EURRegular priceUnit price per -
HYPERIMMUNOGLOBULINEMIA E SYNDROME (HYPER IgE): CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
Regular price €850,00 EURRegular priceUnit price per -
HYPERIMMUNOGLOBULINEMIA E (HYPER-IgE) SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
Regular price €850,00 EURRegular priceUnit price per -
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 21 genes
Regular price €850,00 EURRegular priceUnit price per -
JOUBERT SYNDROME (JBTS): CLINICAL EXOME PANEL (Sec. & CNVs) – 55 genes
Regular price €850,00 EURRegular priceUnit price per -
KABUKI / KABUKI-LIKE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes
Regular price €850,00 EURRegular priceUnit price per -
KLIPPEL-FEIL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 5 genes
Regular price €850,00 EURRegular priceUnit price per -
LEIGH SYNDROME AND MITOCHONDRIAL ENCEPHALOPATHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 144 genes
Regular price €850,00 EURRegular priceUnit price per -
HPRT1 gene analysis using MLPA - Lesch Nyhan syndrome
Regular price €455,00 EURRegular priceUnit price per -
HPRT1 gene analysis using Sanger staining - Lesch-Nyhan syndrome
Regular price €690,00 EURRegular priceUnit price per -
LIDDLE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
Regular price €850,00 EURRegular priceUnit price per -
5-gene analysis - Loeys-Dietz syndrome
Regular price €690,00 EURRegular priceUnit price per
