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65 Result(s)

List of diseases tested (74)

22q11.2 deletion syndrome
AGel amyloidosis
Achondroplasia
Agammaglobulinemia
Alpha-1-antitrypsin deficiency
Angelman syndrome
Aniridia-absent patella syndrome
Aniridia-cerebellar ataxia-intellectual disability syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Bannayan-Riley-Ruvalcaba syndrome
Beckwith-Wiedemann syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome
Branchio-oculo-facial syndrome
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Congenital bilateral absence of vas deferens
Congenital glaucoma
Cowden syndrome
Cystic fibrosis
Cytomegalic congenital adrenal hypoplasia
Duchenne and Becker muscular dystrophy
FRAXE intellectual disability
Familial adenomatous polyposis
Familial thoracic aortic aneurysm and aortic dissection
Fragile X syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary neuropathy with liability to pressure palsies
Huntington disease
Hypochondroplasia
Hypodontia-dysplasia of nails syndrome
Isolated aniridia
Juvenile glaucoma
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Kallmann syndrome
Langer mesomelic dysplasia
Legius syndrome
Loeys-Dietz syndrome
Lynch syndrome
Léri-Weill dyschondrosteosis
MUTYH-related attenuated familial adenomatous polyposis
Macrocephaly-intellectual disability-autism syndrome
Marfan and Marfan-related disorders
Maternal uniparental disomy of chromosome 16
Maternal uniparental disomy of chromosome 6
Mowat-Wilson syndrome
Multiple osteochondromas
NON RARE IN EUROPE: Hemochromatosis type 1
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
NON RARE IN EUROPE: Non rare thrombophilia
Nephroblastoma
Neurofibromatosis type 1
Oculopharyngeal muscular dystrophy
Partial chromosome Y deletion
Paternal uniparental disomy of chromosome 6
Prader-Willi syndrome
Proximal myotonic myopathy
Proximal spinal muscular atrophy
Pseudohypoparathyroidism type 1B
Rare genetic male infertility
Recessive X-linked ichthyosis
Rett syndrome
Rubinstein-Taybi syndrome
SHOX-related short stature
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Smith-Magenis syndrome
Sorsby pseudoinflammatory fundus dystrophy
Steinert myotonic dystrophy
Temple syndrome due to maternal uniparental disomy of chromosome 14
Townes-Brocks syndrome
Transient neonatal diabetes mellitus
Unverricht-Lundborg disease
WAGR syndrome
Williams syndrome
X-linked Charcot-Marie-Tooth disease type 1
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (65)

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Achondroplasia (FGFR3 gene: 2 common mutations - 1138 G>A/C)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Alpha-1 antitrypsin deficiency (Serpina1 gene, 14q32.1: 2 common mutations S&Z)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Amyloidosis, Finnish type (Gelsolin gene (GSN): specific mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Beckwith-Wiedemann syndrome (11p15 microsatellite analysis for UPD, 11p15 methylation analysis ICR1 and ICR2, 11p15 MLPA analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of predisposition to Breast and Ovarian Cancer (BRCA1 and BRCA2 genes: Mut. screening by CSCE, SNPlex and sequencing; dosage by MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Charcot Marie Tooth disease (CMT1A gene: duplication analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Cystic fibrosis (CFTR gene: 32 most common mutations)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Duchenne and Becker Muscular Dystrophy (Dystrophin gene: deletion, duplication, carrier testing and linkage)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Factor V Deficiency - Leiden (F5: specific mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Fragile X syndrome (Genes: FMR1, FMR2)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Haemochromatosis (HFE gene: 2 common mutations, 6p21.3)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Hereditary Nonpolyposis Colorectal Cancer - HNPCC (hMLH1, hMSH2 and hMSH6: by DHPLC and sequencing)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Huntington disease (HTT gene: expansion analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Hypochondroplasia (FGFR3 c.1620CA or c.1620CG mutations)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Marfan and Marfan-like syndromes (FBN1, TGFBR1, TGFBR2, MYH11, ACTA2 genes: CSCE, MLPA and sequencing)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Steinert Myotonic Dystrophy - DM1 (DMPK gene, 19q13.3: expansion analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Oculopharyngeal Muscular Dystrophy (PABPN1 gene, 14q11: expansion and rare point mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Prader Willi syndrome (Methylation-specific MLPA of the SNPRN gene,15q11-q13, UPD and deletion analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Angelman syndrome (Methylation-specific MLPA of the SNPRN gene, 15q11-q13, UPD and deletion analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Hyperprothrombinemia (Prothrombin 20210A mutation)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of diseases caused by mutations in the PTEN gene (full mutation analysis and MLPA, 10q23.3)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Rett syndrome (MECP2 gene: full mutation analysis and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Silver-Russell syndrome (11p15 methylation analysis ICRI, MSMLPA analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Smith-Magenis syndrome (RAI1 gene: full mutation screen and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Spinal Muscular Atrophy (SMN1 gene: deletion analysis exons 7 & 8)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Transient Neonatal Diabetes Mellitus - TNDM (Chromosome 6 microsatellite analysis for UPD, 6q24 methylation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Nonsyndromic X-linked Ichthyosis - STS deficiency (STS gene: deletion analysis by MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Yq microdeletions (AZF a, b and c)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Dyschondrosteosis - Leri-Weill syndrome (full mutation screen and MLPA, SHOX gene in PAR1 of X andY)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Di George syndrome (by MLPA: regions 22q, 10p, 8p, 4q)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Langer mesomelic dysplasia (SHOX gene: full mutation screen and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Blepharophimosis Ptosis Epicanthus Inversus -BPES (FOXL2: full mutation screen and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Neurofibromatosis type 1 (NF1and SPRED1 genes: mutation screening by CSCE,SNPlex and sequencing; dosage by MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Kallmann syndrome type 1 and 2 (KAL1 and FGFR1: point mutation screen and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome (PAX6 gene: full intragenic mutation screen)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Mowat Wilson syndrome (ZFXH1B gene: full mutation screen)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Rubinstein Taybi syndrome (CREBBP and EP300 genes: full mutation screen and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Hypodontia - dysplasia of nails or Witkop syndrome or Tooth and nail syndrome (MSX1 gene: full mutation screen, 4p16.1)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Anophthalmia/microphthalmia - esophageal atresia (SOX2 gene: full mutation screen and MLPA, 3q26.33)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of syndromes with Microphthalmia (BMP4, OTX2, PITX2 & TFAP2A genes: full mutation screen, MLPA and dosage)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Familial thoracic aortic aneurysm (TGFBR1, TGFBR2, MYH11 and ACTA2 genes: full mutation screen and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Neurofibromatosis and Neurofibromatosis-Like Syndrome (Combined Full mutation screen of NF1 and SPRED1: by CSCE, SNPlex and sequencing; dosage by MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Cytomegalic congenital adrenal hypoplasia (DAX1 gene: full mutation analysis and MLPA)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Congenital bilateral absence of vas deferens - CAVD (CFTR gene: CF mutations inc Poly T)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease type 1B - HMSN (MPZ gene: full mutation screen)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of X-linked Charcot-Marie-Tooth disease type 1 (GJB1 gene)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of familial adenomatous polyposis (MYH gene: 2 common mutations by sequencing)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Familial hypercholesterolemia (LDLR, APOB and PCSK9 genes)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Hereditary Neuropathy with liability to Pressure Palsies - HNPP (PMP22 gene: deletion analysis and MLPA, 17p11.2)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Multiple Exostoses (EXT1, 8q23-q24 and EXT2, 11p11-p12: full mutation screen)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Congenital and Juvenile glaucoma (MYOC gene: full mutation screen, 1q23-25)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Proximal myotonic myopathy - Myotonic Dystrophy type 2 (CNBP gene: analysis of common expansion mutation)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Pseudohypoparathyroidism (GNAS methylation, GNAS, STX16 deletions)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Unverricht-Lundborg disease -Progressive Myoclonus Epilepsy type 1 (CSTB gene)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Sorsby's fundus dystrophy (TIMP3 gene: direct sequencing of exons 4 & 5)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Townes-Brocks syndrome (SALL1 gene: targetted analysis of mutation hot-spot)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Uniparental Disomy of chromosome 14 (microsatellite analysis, 14q32 methylation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study, Methylation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Williams syndrome (ELN gene: MLPA, limited screen only - 3 exons)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of agammaglobulinaemia (Methylation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Idiopathic short stature (SHOX gene: full mutation screen MLPA dosage)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular Diagnosis of Loeys-Dietz Syndrome Types 1A, 1B, 2A, 2B, 3 and 4 (TGFBR1, TGFBR2 genes: Sequencing of the entire coding region of gene (s))
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of X- Linked Mental Retardation (Associated With Fragile Site Fraxe) (AFF2 gene: Targetted mutation analysis by PCR and Blot)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Uniparental Disomy of Chromosome 16 (UPD16 Microsatellite Analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of X-Linked Conditions excluding Haemophilia by non-invasive prenatal diagnosis (NIPD) (SRY gene)
Salisbury District Hospital
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics