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Didascalia : Accreditato =Accreditato							
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REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Prader Willi syndrome (SNRPN gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Angelman syndrome (SNRPN gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Huntington disease (HTT gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Androgen Insensitivity (Androgen Receptor (AR): sequencing and dosage)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of predisposition to Breast and Ovarian Cancer (BRCA1 and BRCA2 genes by DNA sequencing and dosage)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale, Valutazione del rischio
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Cystic Fibrosis (CFTR: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Emery Dreifuss Muscular Dystrophy (by mutation analysis of the emerin gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Fragile X syndrome (FRAXA gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Friedreich Ataxia (Frataxin gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Gonadal Dysgenesis (by mutation analysis of the SRY - sex determining region Y- gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Familial Non Polyposis Colon Cancer - HNPCC (MLH1, MSH2 and MSH6: DNA sequencing and dosage)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Incontinentia Pigmenti (NEMO (IKBKG): common deletion and sequencing)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Analisi di delezioni/duplicazioni

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Kennedy disease -SBMA (Androgen receptor)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Tuberous Sclerosis (TSC1 and TSC2: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Von Hippel-Lindau disease (VHL: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of X-Linked Retinoschisis (RS1: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Distal Renal Tubular Acidosis, autosomal dominant (mutation analysis of exons 14, 15 & 20 of SLC4A1 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Dentatorubral Pallidoluysian Atrophy -DRPLA (ATN1 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Familial Juvenile Hyperuricaemic Nephropathy (UMOD: mutation analysis of exons 4, 5, 6, 7 and 8)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Scanning/screening mutazionale e sequenziamento di esoni selezionati
Tecnica/Tecniche : Sequenziamento NGS (escluso WES), Sequenziamento con metodo Sanger, Tecniche basate sulla PCR

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Gitelman syndrome (SLC12A3: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Liddle syndrome (by mutation analysis of exon 12 in both the SCNN1B and SCNN1G genes)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Medullary Cystic Kidney disease -MDKD2 (UMOD: mutation analysis of exons 4, 5, 6, 7 and 8)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Allan-Herndon-Dudley syndrome (MCT8 -monocarboxylate transporter: sequencing analysis and dosage)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of GRN-related Frontotemporal Dementia (Progranulin (PGRN): sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Thyroid Hormone Resistance (TRbeta: exons 7-10)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Dysalbuminemic Hyperthyroxinemia (ALB: mutations at pos 242)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Glucocorticoid Remediable Aldosteronism -GRA (unequal crossover of CYP11B2/CYP11B2)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Hereditary Fructose Intolerance (Aldolase B: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Ferroportin disease - Hemochromatosis type 4 (SLC40A1, ferroportin 1 (FPN1): mutation analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Bartter syndrome type 3 (CLCNKB: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of FG syndrome (mutation analysis of exon 21 of MED12 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Insulin-resistance syndrome type A (Insulin Receptor (INSR): sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Leprechaunism - Donohue syndrome (Insulin Receptor (INSR): sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Rabson-Mendenhall syndrome (Insulin Receptor (INSR): sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Isolated Congenital Microcephaly (ASPM (MCPH5): sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Kniest dysplasia (COL2A1: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Marshall syndrome (COL11A1: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Achondrogenesis type 2 (COL2A1: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Spondyloepiphyseal dysplasia congenita (COL2A1: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Stickler syndrome type 3 (COL11A2 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Congenital Antithrombin deficiency (SERPINC: sequencing and dosage)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Congenital Factor XI deficiency (F11 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Focal Segmental Glomerulosclerosis (ACTN4)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Analisi mirata a una mutazione specifica
Tecnica/Tecniche : Sequenziamento con metodo Sanger

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Haemochromatosis type 1 (HFE gene: C282Y and H63D mutations, and full sequencing)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Von Willebrand disease (VWF: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Steroid 5-alpha-reductase 2 deficiency (SRD5A2: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (HSD17B3 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Congenital Factor VII deficiency (F7 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Congenital Factor X deficiency (F10 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Congenital Factor XIII deficiency (F13A1 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Early-onset autosomal dominant Alzheimer disease (APP: sequencing and dosage analysis of exons 16 and 17)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Mendelian susceptibility to atypical mycobacteria (IFNGR1, IFNGR2, IL12RB1, IL 12P40(B), TYK2, STAT1 and IKBKG: sequencing)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale, Valutazione del rischio
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Hereditary sensory and autonomic neuropathy type 4 - HSAN4 (TRKA gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Hereditary sensory and autonomic neuropathy type 5 - HSAN5 (NGF and TRKA genes)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Congenital insensitivity to pain (SCN9A gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Paroxysmal extreme pain disorder (SCN9A gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Primary erythermalgia (SCN9A gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Haemophilia A (F8: common inversions, sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Pseudo-Von Willebrand disease (GP1BA gene: screening for 3 reported point mutations Gly233Ser, Gly233Val and Met239Val by direct sequencing)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Analisi mirata a una mutazione specifica

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of thrombophilia: factor V Leiden (F5 gene: R534Q (p.R506Q) mutation) and factor II (F2 gene G20210A mutation)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Spinocerebellar Ataxia type 3 (ATXN3 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Spinocerebellar Ataxia type 7 (ATXN7 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Spinocerebellar Ataxia type 17 (TBP gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Primary autosomal recessive microcephaly type 2 - MCPH2 (WDR62 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Distal renal tubular acidosis, autosomal recessive (ATP6V1B1 and ATP6V0A4 genes)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Familial dysautonomia (IKBKAP gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of 46, XY disorder of sex reversal due to mutations in NR5A1 gene (mutation and dosage)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Haemophilia B - Congenital Factor IX deficiency (F9: sequencing and dosage analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Familial partial lipodystrophy associated with PPARG mutations - FPLD3 (PPARG gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Familial partial lipodystrophy, Dunnigan type - FPLD2 (LMNA gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Generalized congenital lipodystrophy type 1 and 2 (BSCL2 and AGPAT2 genes)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Hypothyroidism due to TSH receptor mutations (TSHR: sequencing analysis)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Hereditary hyperferritinemia with congenital cataracts (FTL gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Hereditary sensory and autonomic neuropathy type 4 -CIPA (NTRK1 (TRKA): sequencing)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Idiopathic and/or familial pulmonary arterial hypertension (BMPR2, ACVRL1 (ALK1), ENG and SMAD9 genes)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Autosomal recessive distal renal tubular acidosis with deafness (ATP6V1B1 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema (IKBKG (NEMO) gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of Steinert Myotonic Dystrophy (DM1 gene)
Addenbrooke's Hospital
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Accreditato							
Molecular diagnosis of susceptibility to Familial Atypical Mycobacteriosis (IKBKG, IFNGR1, IFNGR2, IL12RB1, IL12B genes: Sequencing of the entire coding region of gene (s))
Addenbrooke's Hospital
Scopo : Diagnosi postnatale, Valutazione del rischio
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Sequenziamento dell'intera regione codificante