OXFORD MEDICAL GENETICS LABORATORIES
CURRENT DISEASE SERVICES – APRIL 2015
Please note that there is a 15% surcharge for Non-NHS patients.
Highly specialised services (HSS) are indicated.
DISEASE and Comments
TAT
Cost
Achondroplasia
Screen for common mutation
10
£145
Amyotrophic lateral sclerosis (ALS) / Motor neurone disease (MND)
Direct mutation test – PCR & TP-PCR
Direct mutation test – Southern blot
10
40
£220
£220
Andersen-Tawil syndrome
Testing for known mutations
KCNJ2 Mutation screening
10
40
£170
£220
Angelman syndrome (AS)
Deletion and Methylation analysis
Family studies for Uniparental disomy
UBE3A mutation screen
Testing for known mutations
10
10
40
10
£220
£220
£500
£170
Apert syndrome
Screen for common mutations
10
£145
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Testing for known mutations
NGS screen of candidate genes (8 gene panel) inc MLPA of PKP2
Level 2 Mutation screening - JUP, TMEM43, LMNA, DES
10
60-80
40
£170
£1,020
£650
Ataxia
Testing for known mutations
NGS screen of candidate genes (91 gene panel)
10
80
£145
£1,020
Autosomal Dominant Hypocalcaemia (ADH)
Testing for known mutations
Mutation screening CASR (FHH1)
Mutation Screening GNA11 (FHH2)
10
40
40
£170
£375
£375
Brugada syndrome
Testing for known mutations
NGS screen of candidate genes (17 gene panel)
Mutation screening of SCN5A (will not be available after2015/16)
10
60-80
40
£170
£650
£375
Cleidocranial dysplasia HSS funded service
Testing for known mutations
Mutation screening (including dosage analysis)
Dosage analysis only
10
40
10
£145
£500
£220
Calcium Sensing Receptor (FHH1, ADH1, FIHP)
Testing for known mutations
Mutation screening
10
40
£170
£375
Breast/Ovarian cancer (BRCA1/ BRCA2) – see Cancer
Cancer (Bowel/breast/ovarian)
Testing for known mutations
BRCA1/BRCA2 Mutation screen
NGS screen of candidate genes
10
40
80
£170
£600
£1020
Carpenter syndrome HSS funded service
Testing for known mutations
Mutation screening of RAB23
10
40
£145
£450
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Testing for known mutations
NGS screen of candidate genes (7 gene panel)
10
60-80
£170
£650
10
£145
40
40
40
£550 per gene
£500 per gene
£450 per gene
Craniofacial disorders HSS funded service
Testing for known mutations
Apert syndrome targeted testing
Level 1 mutation screening of candidate genes & dosage analysis
Level 2 mutation screening
ERF mutation screen
TCF12 mutation screen
IL11RA mutation screen
Dosage analysis only
10
10
40
40
40
40
40
10
£145
£145
£450
£450
£450
£550
£500
£220
Craniofrontonasal syndrome HSS funded service
Testing for known mutations
Mutation screening (including dosage analysis)
Dosage analysis only
10
40
10
£145
£500
£220
Cystic Fibrosis (CF)
Screen for common mutations
10
£145
Duchenne & Becker Muscular Dystrophy (DMD/BMD)
Duplication and deletion screening
Family studies by linkage
10
10
£220
£450
Familial Dilated Cardiomyopathy (DCM)
Testing for known mutations
NGS screen of candidate genes (28 gene panel)
10
60-80
£170
£1,020
Familial adenomatous polyposis coli (FAP)
Testing for known mutations
Mutation screening (including dosage analysis)
10
40
£170
£650
Familial Hypertrophic Cardiomyopathy (HCM)
Testing for known mutations
NGS screen of candidate genes (16 gene panel)
10
60-80
£170
POA
Familial Isolated Pituitary adenoma
Testing for known mutations
Mutation screening AIP
10
40
£145
£220
Congenital Myasthenic Syndromes HSS funded service
Testing for known mutations
Mutation screening of candidate genes:
CHAT / COLQ / GFPT1
CHRNE / CHRNB1 / CHRND / CHRNG
CHRNA1 / RAPSN / DOK7 / DPAGT1
Familial Malignant Melanoma
Testing for known mutations
Mutation screening CDKN2A & CDK4
10
40
£170
£450
Fragile X syndrome (FRAXA)
Direct mutation test – PCR
Direct mutation test – Southern blot
10
40
£145
£220
GDF5-associated skeletal disorders
Testing for known mutations
Mutation screening
10
40
£145
£450
GREM1 associated mixed polyposis
Testing for known mutation
10
£220
Hereditary Motor and Sensory neuropathies (X-linked CMT)
Testing for known mutations
Mutation screening of Cx32 (GJB1)
10
40
£170
£220
Hereditary nonpolyposis colon cancer (HNPCC)
Testing for known mutations
Mutation screening and dosage (MLH1, MSH2, MSH6 genes)
Microsatellite Instability
Dosage only
10
40
40
10
£170
£800
£220
£220
Hereditary papillary renal carcinoma
Testing for known mutations
Mutation screening MET
10
40
£170
£220
Huntington disease (HD)
Direct mutation test
Exclusion testing by linkage
10
10
£220
£220
Hyperparathyroidism Jaw Tumour syndrome (&FIHP)
Proforma required
Testing for known mutations
Mutation screening CDC73
10
40
£170
£375
Hypochondroplasia
Testing for known mutations
Screen for common mutations
10
40
£145
£220
10
£170
40
£750
40
40
40
£375
£375
£375
Hyperparathyroidism
Testing for known mutations
Mutation screening of candidate genes:8 gene mutation screen (MEN1, CASR, CDC73, RET, CDKN1B,
CDKN2B, CDKN2C, CDKN1A)
Or individual genes:
MEN1 screen
CDC73 screen
CASR screen
Hypoparathyroidism
Testing for known mutations
Mutation screening of candidate genes:AIRE screen
GATA3 screen
GCM2 screen
PTH screen
CASR screen
GNA11 screen
or
6 gene mutation screen
10
£170
40
40
40
10
40
£500
£450
£450
£220
£375
40
£850
10
80
£170
£900
10
40
£170
£600
10
40
£145
£450
Lebers Hereditary Optic Neuropathy (LHON)
LHON screen
10
£170
Li-Fraumeni syndrome
Testing for known mutations
Mutation screening and dosage analysis TP53
10
40
£170
£450
10
60-80
£170
£650
40
40
£600
£375
10
40
40
£145
£220
£170
10
80
£220
£1020
20
40
40
40
40
40
40
40
£800
£600
£600
£550
£500 per gene
£450 per gene
£220 per gene
£700
Joubert syndrome and related disorders
Testing for known mutations
NGS screen of candidate genes (27 gene panel) includes MLPA of
NPHP1
Juvenile polyposis syndrome (JPS)
Testing for known mutations
Mutation screening and dosage analysis (SMAD4 & BMPR1A)
LADD syndrome/ ALSG
Testing for known mutations
Mutation screening (FGFR3 exon 13, FGFR2 exon 16 and FGF10 exons
1-3) and dosage analysis
Long QT syndrome (LQT)
Testing for known mutations
NGS screen of candidate genes (16 gene panel)
Mutation screening of candidate genes (only available until 2015/16)
KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A
SCN5A
Mitochondrial diseases
HSS funded service (except for LHON, see above)
Testing for known mutations
Screen for common mitochondrial DNA mutations
mtDNA depletion analysis
Mutation screening of nuclear candidate genes:POLG target screen (5 common mutations)
NGS screen of candidate genes (19-20 genes including those
listed below)
DGUOK, MPV17, POLG & TRMU sequencing
POLG & PEO1 sequencing
SUCLA2 & SUCLG1 sequencing
POLG sequencing
TK2 / TRMU single gene sequencing
DGUOK / MPV17 / POLG2 / RRM2B single gene sequencing
ANT1 / PEO1 single gene sequencing
OPA1 sequencing & dosage analysis (not all cases fulfil HSS
funding requirements – call lab to discuss)
MEN1 & FIHP & MEN4
Testing for known mutations
Mutation screening MEN1 gene (incl dosage)
Dosage analysis MEN1
Screen CDKN1B (MEN4)
10
40
10
40
£170
£375
£220
£170
MEN2 & FMTC
Testing for known mutations
Mutation screening in RET exons 10 & 11
Mutation screening in RET exons 8, 10, 11, 13, 14, 15 & 16
10
40
40
£170
£220
£450
MYH polyposis
Test for 2 common mutations
Testing for known mutations
10
10
£220
£170
MHYRE syndrome
Testing for known/common mutation
10
£145
Myotonic dystrophy Type 1
Direct mutation test – PCR
Direct mutation test – Southern blot
10
40
£220
£220
NGS sequencing panels – see individual diseases for panel costs
Re-interrogation NGS – Unmasking NGS data plus Sanger
Re-interrogation NGS – Unmasking NGS data no Sanger
Variant reclassification letter
Variant confirmation and interpretation
40
10
10
40
£375
£220
£145
£220
NOG-associated skeletal disorders
Testing for known mutations
Mutation screening
10
40
£145
£450
10
£170
40
£650
Pallister-Hall, Grieg Cephalopolysyndactyly syndrome, Preaxial
polydactyly type IV, Preaxial polydactyly type A1
Testing for known mutations
Targeted GLI3 screen
Mutation screening of GLI3 (including dosage analysis)
Dosage analysis only
10
40
40
10
£145
£450
£600
£220
Parietal foramina & Boston-type craniosynostosis
HSS funded service
Testing for known mutations
Mutation screening (ALX4 and MSX2) and dosage analysis
Dosage analysis only
10
40
10
£145
£450
£220
Pheochromocytoma (isolated)
Testing for known mutations
Dosage analysis (familial Mutation)
9 gene mutation screen (VHL, SDHB, SDHC, SDHD, SDHA, TMEM127, MAX,
10
10
40
£170
£220
£600
40
£500
Painful channelopathies
Testing for known mutations
Mutation screening of candidate genes –
4 gene screen SCN9A, SCN10A, SCN11A, TRPA1
SDHAF2, RET ex 10&11)
Isolated pheo >45yrs – TMEM127 &SDHB
Individual gene prices on request.
Polmerase Proofreading-Associated Polyposis (PPAP)
Colorectal cancer (POLD1/POLE)
Testing for known mutations
Mutation screen
10
40
£170
£375
Prader-Willi syndrome (PWS)
Deletion and methylation analysis
Family studies for uniparental disomy
10
10
£220
£220
PTEN
PTEN mutation screening and dosage analysis
40
£500
Inherited Retinal Dystrophy (IRD)
N.B. All IRD prices are currently subsidised by an OUH Trust
translational research grant
NGS screen of candidate genes:_
RP and RP-like phenotypes ( 111 gene panel)
Syndromic retinal dystrophies (84 gene panel)
Macular phenotypes (17 gene panel), includes Stargardt disease
Non-progressive “Stationary” conditions (28 gene panel)
Optic nerve disease (11 gene panel)
Optic nerve panel plus 3 LHON common mtDNA mutations
Testing for known mutations
80
80
80
80
80
80
10
£650
£650
£375
£500
£375
£500
£170
Robinow syndrome (autosomal dominant)
Testing for known mutations
WNT5A mutation screening
10
40
£145
£450
Robinow syndrome (recessive) & Brachydactyly type B1
Testing for known mutations
Targeted ROR2 mutation screen
ROR2 mutation screening and dosage analysis
Dosage analysis only
10
40
40
10
£145
£220
£500
£220
10
10
£220
£450
Succinate dehydrogenase (SDH) / Familial Paraganglioma
Syndromes
Testing for known mutations
SDHB/C/D Mutation screening
10
40
£170
£600
Spinal and bulbar muscular atrophy
Direct mutation test
Linkage analysis
10
10
£220
£450
Spinal muscular atrophy
SMN1 dosage analysis
Linkage analysis
10
10
£220
£450
Synpolydactyly type II, Brachydactyly type D & type E
Sequencing of known mutations
Dosage analysis of known mutations
HOXD13 mutation screening and dosage analysis
10
10
40
£145
£220
£450
TP53
TP53 mutation screening and dosage analysis
40
£450
Russell Silver syndrome
Deletion and methylation analysis
Linkage analysis for uniparental disomy (N.B. Parental samples are also
required)
Treacher Collins syndrome types 1-3
Testing for known mutations
TCOF1 mutation screening and dosage analysis
POLR1C mutation screening
POLR1D mutation screening
POLR1C & D mutation screening and dosage analysis
Dosage analysis only
10
40
40
40
40
10
£145
£600
£500
£220
£500
£220
Timothy Syndrome
Testing for known mutations
Screen for known mutations in CACNA1C
10
40
£170
£220
Uromodulin (UMOD) & REN
Mutation screening
40
£450
UPD14 & 16
Parental samples also required
Linkage analysis for uniparental disomy
10
£450
Von Hippel Lindau syndrome (VHL)
Testing for known mutations
Mutation screening and dosage analysis
10
40
£145
£450
10
40
£145
£800
10
40
£145
£220
10
£220
X-linked periventricular nodular heterotopia, Otopalatodigital
syndromes types 1 & 2, Melnick-Needles syndrome,
Frontometaphyseal dysplasia
Testing for known mutations
FLNA mutation screening (full gene)
[Targeted screening may be available at reduced cost – call to discuss]
ZRS regulatory region of SHH-associated skeletal disorders
Testing for known mutations
Mutation screening
Zygosity testing
To aid in the diagnosis of medical conditions only
Ideally, parental samples are also required
Microsatellite analysis