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Molecular Genetics Directory of Tests

Tests available for inherited disorders

Condition and test description Turnaround time

Adrenoleukodystrophy (X-linked)

  • Diagnostic testing for mutations in ABCD1 gene
8 weeks
  • Familial mutation studies
4 weeks
Aneuploidy screening (QF-PCR)
  • Screening for trisomy 13, 18 & 21 plus sex chromosome aneuploidies
3 days
Breast Cancer (familial)
  • BRCA1 & BRCA2 familial mutation studies only. Referrals only accepted from Clinical Genetics Department.
2 weeks
CADASIL
  • Diagnostic testing for mutations in Notch3 gene
8 weeks
  • Familial mutation studies
4 weeks
Cystic Fibrosis (CF)
  • Diagnostic testing and carrier detection for 50 'common' CFTR mutations
4 weeks
  • Other rarer CFTR mutations tested by specific request
Please enquire
  • Cystic Fibrosis Newborn Screening (F508 del and 3 other common mutations)
3 days
DRPLA (Dentatorubral-pallidoluysian atrophy)
  • Testing for CAG expansion mutation
4 weeks
Duchenne/Becker Muscular Dystrophy (DMD/BMD)
  • Diagnostic testing and carrier detection for deletion / duplication mutations in the Dystrophin gene and linkage analysis where necessary
4 weeks
Torsion Dystonia
  • Diagnostic testing for DYT1 mutation in Torsion Dystonia
4 weeks
Familial Adenomatous Polyposis (FAP)
  • APC gene familial mutation studies. Referrals only accepted from Clinical Genetics Department. Please note testing for specific exons only can be offered – please contact the lab for details.
4 weeks (known mutations) or 8 weeks (linkage)
Familial Hypercholesterolaemia (FH)
  • Screening for 20 known FH-causing mutations (in LDLR, APOB & PCSK9 genes)
2 weeks
  • Full screening of mutations in exons 1 to 18 of the LDLR gene. exon 26 of APOB & exon 7 of PCSK9
8 weeks
  • Familial mutation studies
2 weeks
Fragile X syndrome (FRAX)
  • Diagnostic testing and carrier detection for Frax E testing if specifically requested
4 weeks (PCR) or 8 weeks (further analysis)
Friedreich Ataxia
  • Diagnostic & carrier testing for the GAA expansion mutation
4 weeks
  • Point mutation analysis in FXN gene
8 weeks
Gilbert syndrome
  • Testing for TATAA box mutation in UGT1A1 gene
4 weeks
Haemochromotosis
  • Testing for C282Y mutation, and H63D mutation as a reflex test
4 weeks
Hearing loss (non-syndromic)
  • Diagnostic testing for Connexin-26 (GJB1) and Connexin-30 (GJB6) gene mutations
8 weeks
  • Familial mutation studies for Connexion 26 gene
4 weeks
  • Diagnostic testing for Mitochondrial mutation m.1555A>G
4 weeks
HMSN & HNPP (Charcot-Marie-Tooth Disease)
4 weeks
8 weeks
  • Familial mutation studies for the above genes
4 weeks
Hereditary Non-Polyposis Colon Cancer (HNPCC)
  • Full screening for mutations in MLH1, MSH2 and MSH6 - referrals only accepted from Clinical Genetics Department

12 weeks

  • Familial mutation studies for the above genes
4 weeks
  • Microsatellite instability (MSI)
4 weeks
Huntington disease (HD)
  • Testing for CAG expansion mutation. Pre-symptomatic referrals only accepted from Clinical Genetics Department
4 weeks
Infantile Neuroaxonal Dystrophy (INAD)
  • Full screening for mutations in the PLA2G6
8 weeks
  • Familial mutation studies in the PLA2G6 gene

4 weeks

Kennedy Syndrome (SBMA)

  • Testing for CAG expansion mutation in the Androgen Receptor (AR) gene
4 weeks
Leber's Hereditary Optic Neuropathy (LHON)
  • Diagnostic testing for 3 common mitochondrial DNA mutations (m.11778G>A, m.3460G>A & m.14484T>C)
4 weeks
Medium chain acyl dehydrogenase deficiency (MCADD)
  • Testing for common c.985A>G mutation only
4 weeks
  • Newborn screening for c.985A>G mutation
3 days
Mitochondrial disease
  • Testing for common point mutations associated with MELAS (m.3243A>G), MERRF (m.8344A>G) and NARP (m.8993T>G/C)
4 weeks
  • Testing for mitochondrial genomic rearrangements (muscle biopsy preferred)
4 weeks
Myoclonic Dystonia
  • Full screening for mutations in the SGCE gene
8 weeks
  • Familial mutation studies in the SGCE gene
4 weeks
Myotonic Dystrophy (type 1)
  • Testing for CTG expansion mutation
4 weeks
Myotonic Dystrophy (type 2)
  • Testing for CCTG expansion mutation
4 weeks
Myotubular Myopathy (X linked)
  • Diagnostic testing for mutations in MTM1 gene
8 weeks
  • Familial mutation studies
4 weeks
Nail Patella Syndrome
  • Diagnostic testing for mutations in LMX1B gene
8 weeks
  • Familial mutation studies
2 weeks
Neuroferritinopathy
  • Testing for mutations in exon 4 of the FTL gene, including c.408insA mutation
4 weeks
Oculopharyngeal Muscular Dystrophy (OPMD)
  • Testing for GCN (Alanine) expansion mutation in PABPN1
4 weeks
Pancreatitis (Hereditary & Idiopathic)
  • Testing for PRSS1 mutations
8 weeks
  • Familial PRSS1 mutation studies
4 weeks
4 weeks
Peutz-Jegher syndrome
  • Diagnostic testing for mutations in STK11 gene
8 weeks
  • Familial mutation studies
2 weeks
PKAN (Hallervorden-Spatz)
  • Diagnostic testing for mutations in PANK2 gene
8 weeks
  • Familial mutation studies
2 weeks
Prader-Willi & Angelman syndromes (PWS / AS)
  • Diagnostic testing using methylation studies
4 weeks
  • Family studies on positive cases by microsatellite analysis
4 weeks
Rett Syndrome
  • Diagnostic testing for mutations in MECP2
8 weeks
  • Familial mutation studies
4 weeks
Spinal Muscular Atrophy (SMA)
  • Diagnostic and carrier testing for SMN1 deletions
4 weeks
  • Linkage analysis for family studies
 
Spinal Cerebellar Ataxia (SCA types 1, 2, 3, 6, 7, 17)
4 weeks
Uniparental disomy (UPD) studies
  • Testing for UPD7 and UPD14. Parental samples required
4 weeks
Zygosity / Paternity analysis
  • Zygosity and Paternity testing is only available for clinical not social/legal cases
4 weeks

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