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54 Result(s)

List of diseases tested (52)

Angelman syndrome
Autosomal dominant non-syndromic sensorineural deafness type DFNA
Autosomal recessive non-syndromic sensorineural deafness type DFNB
CADASIL
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Cystic fibrosis
Dentatorubral pallidoluysian atrophy
Duchenne and Becker muscular dystrophy
Early-onset generalized limb-onset dystonia
FRAXE intellectual disability
Familial adenomatous polyposis
Fragile X syndrome
Friedreich ataxia
Genetic disorder of sex development
Hereditary breast and ovarian cancer syndrome
Hereditary chronic pancreatitis
Hereditary neuropathy with liability to pressure palsies
Huntington disease
Kennedy disease
Larsen syndrome
Leber hereditary optic neuropathy
Lynch syndrome
MELAS
MERRF
Medium chain acyl-CoA dehydrogenase deficiency
Myoclonus-dystonia syndrome
NARP syndrome
NON RARE IN EUROPE: Gilbert syndrome
NON RARE IN EUROPE: Hemochromatosis type 1
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
Nail-patella syndrome
Neurodegeneration with brain iron accumulation
Neuroferritinopathy
Oculopharyngeal muscular dystrophy
Peutz-Jeghers syndrome
Prader-Willi syndrome
Proximal myotonic myopathy
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Rett syndrome
Silver-Russell syndrome
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 17
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 3
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Steinert myotonic dystrophy
Uniparental disomy of chromosome 7
X-linked adrenoleukodystrophy
X-linked centronuclear myopathy
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (54)

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of X-linked Adrenoleukodystrophy (ABCD1 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of predisposition to Breast and Ovarian Cancer (BRCA1 and BRCA2 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of CADASIL - Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (NOTCH3 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease - Types CMTA2A, CMT1A, CMT1B (PMP22, MPZ, GJB1, MFN2 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of cystic fibrosis (CFTR gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Dentatorubral Pallidoluysian Atrophy (DRPLA) (gene: ATN1)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Duchenne and Becker Muscular Dystrophy (gene: DMD)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis - FAP (APC gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Fragile X syndrome (gene: FMR1)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Friedreich Ataxia (gene: FXN)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Gilbert syndrome (UGT1A1 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Haemochromatosis type 1 (gene: HFE)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Hereditary Pancreatitis (PRSS1, SPINK1 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Familial Non Polyposis Colon Cancer - HNPCC (MLH1, MSH2, MSH6 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Huntington disease (gene HTT)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Leber Optic Atrophy - LHON (Genes: MT-ATP6, MT-ND1, MT-ND4, MT-ND6)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of MCAD deficiency (gene: ACADM)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of MELAS syndrome (MT-TL1 gene: m.3243>G)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Steinert myotonic dystrophy (gene: DMPK)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Nail-Patella syndrome (gene: LMX1B)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Neurodegeneration With Brain Iron Accumulation 1 by sequencing of the entire coding region of gene plus copy number analysis (PANK2 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Prader Willi syndrome (gene NDN or SNRPN)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Angelman syndrome (gene NIPA2 or SNRPN or UBE3A)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Kennedy disease (Spinal And Bulbar Muscular Atrophy, X-Linked 1) (AR gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinal Muscular Atrophy - SMA (SMN1 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 1 (ATXN1 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Neurodegeneration with brain iron accumulation 3 by sequencing of selected exons (FTL gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of X-linked Myotubular Myopathy (MTM1 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of MERRF syndrome (MT-TK gene: m.8344A>G)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of NARP syndrome (MT-ATP6 gene: m.8993T>G/C)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of torsion dystonia DYT1 (TOR1A gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of familial hypercholesterolemia - FH (LDLR, APOB and PCSK9 genes: mutation analysis)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Myoclonic Dystonia (SGCE gene: full screening)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Proximal myotonic myopathy -myotonic dystrophy type 2 (CNBP gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Oculopharyngeal muscular dystrophy (PABPN1 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 2 (ATXN2 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 3 (Machado-Joseph Disease) (ATXN3 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 6 (CACNA1A gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar Ataxia type 7 (ATXN7 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Rett syndrome (MECP2 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinocerebellar ataxia type 17 -SCA17 (TBP gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 and GJB6 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Autosomal dominant nonsyndromic sensorineural deafness type DFNA (GJB2 and GJB6 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Medium Chain Acyl-CoA Dehydrogenase Deficiency by Targeted mutation analysis (p.K329E, ACADM gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Mental Retardation, X-Linked, Associated With Fragile Site Fraxe by targetted mutation analysis (gene AFF2)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Neurodegeneration With Brain Iron Accumulation 2Aby sequencing of the entire coding region of gene plus copy number analysis - NBIA2A (PLA2G6 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Neuropathy, Hereditary, With Liability To Pressure Palsies by sequencing of the entire coding region plus targetted copy number analysis (PMP22 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Silver-Russell Syndrome (SRS) by gene tracking (Genes: CDKN1C, H19, UPD7)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Spinal And Bulbar Muscular Atrophy Type 1 by Gene Tracking and Targetted Copy Number Analysis (Gene SMN1)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Hereditary Motor and Sensory Neuropathy (HMSN) by NGS: HMSN gene panel (Please refer to additional information: Genes concerned)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Epilepsy and related conditions by NGS: Epilepsy gene panel (Please refer to additional information: Genes concerned)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Diagnosis of Orofacial Clefting (Panel)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)