Addenbrooke's Hospital
Research and Development
The Rosie Hospital
East East Anglian Medical Genetics Service Genetics laboratories
Services and tests available
Sample requirements and test request cardPrivate patientsQuality assurance and accreditationPosters and publicationsOpportunities and trainingLatest newsContacts
Clinical Pathology Accreditation (UK)
Reference no: 1275
Services and tests available
Genetics laboratories
Cytogenetic studies | Molecular studies | Paternity testing
Types of investigation
- Confirmation/exclusion of a diagnosis.
- Carrier testing and risk assessment in families with a known genetic disorder.
- Presymptomatic testing in individuals at risk of a late-onset genetic disorder.
- Prenatal diagnosis of genetic conditions.
For some of these disorders, the sample will be sent to another UK laboratory.
All test requests may be reviewed by the genetics service. The laboratory reserves the right not to test samples or send referrals to other laboratories.
Cytogenetic studies
| Tissue type | Request category | Cost | Reporting time |
| Peripheral blood | Urgent G-banded karyotype | £125.00 | 10 days |
| Routine G-banded karyotype | £125.00 | 14-28 days | |
| Blood culture | £55.00 | 3 days | |
| FISH for trisomy 21 | £90.00 | 1-3 days | |
| G-banded karyotype & FISH | £212.50 | 14-28 days | |
| Complex FISH with >3 probes | £312.50 | 28 days | |
| Microarray: SNP6.0 | £350.00 | 28 days | |
| Microarray: 60K | £180.00 | 10-14 days | |
| Amniotic fluid | G-banded karyotype | £150.00 | 10-14 days |
| FISH for trisomy 13, 18, 21 | £90.00 | 1-3 days | |
| G-banded karyotype & FISH | £225.00 | 10-14 days | |
| Chorionic villus | G-banded karyotype | £162.50 | 10-14 days |
| FISH for trisomy 13, 18, 21 | £90.00 | 1-3 days | |
| Cell culture & send out | £90.00 | 10 days | |
| G-banded karyotype & FISH | £225.00 | 10-14 days | |
| Solid tissue (placental biopsy, skin biopsy,tumour biopsy, etc.) | G-banded karyotype | £162.50 | 14-28 days |
| Cell culture & send out | £90.00 | 14-21 days | |
| FISH for trisomy 13, 18, 21 | £90.00 | 1-3 days | |
| FISH to determine sex (X&Y probes) | £90.00 | 1-3 days | |
| Microarray: SNP6.0 | £350.00 | 28 days | |
| Microarray: 60K | £180.00 | 10-14 days | |
| Stem cells | Cell culture & harvest | £30.00 | 1-3 days |
| G-banded karyotype | £150.00 | 10-14 days | |
| Microarray: SNP6.0 | £350.00 | 28 days | |
| Microarray: 60K | £180.00 | 10-14 days |
Molecular studies (NHS prices)
Non-NHS tests will incur a surcharge.
| Disorder / analysis | Gene | Mutation screening / analysis | Cost | Reporting time |
|---|---|---|---|---|
| Any - dosage test | Any | MLPA for whole or multi exon deletion/duplication | £175.00 | 10 days |
| Any - sequence single exon for predictive/carrier test | Any | PCR and sequencing analysis of a single amplicon for a known mutation | £145.00 | 10 days |
| Any - sequence single exon for predictive/carrier test for multiple family members | Any | PCR and sequencing analysis of a single amplicon for a known mutation | £99.00 | 10 days |
| Any - sequence two exons for predictive/carrier test | Any | PCR and sequencing analysis of two amplicons for a known mutations | £175.00 | 10 days |
| Any - confirmation of known mutation detected on research basis | Any | PCR and sequencing analysis of single amplicon for a known mutation | £175.00 | 40 days |
| Any - prenatal test including exclusion of maternal cell contamination (MCC) | Any | Testing for known familial mutation(s) and MCC | £350.00 | 3 days |
| Any - identity comparison studies for clinical utility only | Any | Powerplex PCR analysis at 15 loci | £175.00 | 10 days |
| Any - extraction of blood sample(s) for diagnostic or research purposes | Any | Automated DNA extraction | > DNA extraction and sequencing service | |
| Any - sequencing of DNA products for diagnostic or research purposes | Any | Run on ABI 3130 or 3730 only | ||
| Set up sequencing, clean up and run on ABI 3130 or 3730 | ||||
| Any - fragment analysis for diagnostic or research purposes | Any | Fragment analysis on Beckman CEQ | please enquire | |
| 17ß hydroxysteroid dehydrogenase III deficiency | HSD17B3 | Sequencing of exons 1-11 and dosage analysis of exons 1, 3 and 11 | £415.00 | 40 days |
| Achondrogenesis type 2 (ACG2) | COL2A1 | Sequencing and dosage analysis of exons 1-54 | £850.00 | 40 days |
| Allan Herndon Dudley syndrome (AHDS; MCT8 deficiency) | SLC16A2 (MCT8) | Sequencing of exons 1-6 | £295.00 | 40 days |
| Dosage analysis | £175.00 | 40 days | ||
| Alzheimer Disease, early onset familial (AD1) | APP | Sequencing of exons 16 and 17 and dosage analysis of exons 1, 2, 3, 4, 6 , 7, 9, 12, 14, 16 and 18 | £175.00 | 40 days |
| Androgen Insensitivity syndrome (AIS) | Androgen receptor (AR) | Sequencing of exons 1-8 | £415.00 | 40 days |
| Dosage analysis | £175.00 | 40 days | ||
| Angelman syndrome (AS) | SNRPN | Methylation analysis using bisulphite PCR | £145.00 | 10 days |
| Methylation and dosage analysis using bisulphite PCR and MLPA | £175.00 | 10 days | ||
| UPD15 studies | £415.00 | 40 days | ||
| Antithrombin III deficiency (AT-III) | SERPINC1 | Sequencing and dosage analysis of exons 1-7 | £295.00 | 40 days |
| Bartter syndrome type 3 | CLCNKB | Sequencing and dosage analysis of exons 1-19 | £475.00 | 40 days |
| Breast/Ovarian cancer (familial cases only) | BRCA1 and BRCA2 | Sequencing and dosage analysis of BRCA1 exons 2-24 and BRCA2 exons 2-27 | £850.00 | 40 days |
| Collagenopathies, type II | COL2A1 | Sequencing and dosage analysis of exons 1-54 | £850.00 | 40 days |
| Congenital erythermalgia | SCN9A | Sequencing of exons 1-26 | £625 | 40 days |
| Congenital insensitivity to pain | SCN9A | Sequencing of exons 1-26 | £625 | 40 days |
| Congenital insensitivity to pain with anhidrosis (CIPA) | NTRK1 | Sequencing of exons 1-17 | £415.00 | 40 days |
| Cystic fibrosis (CF) | CFTR | PCR analysis for common 50 mutations | £145.00 | 10 days |
| Sequencing and dosage analysis of exons 1-24 | £475.00 | 40 days | ||
| Donohue syndrome (Leprechaunism) | INSR | Sequencing and dosage analysis of exons 1-22 | £475.00 | 40 days |
| Dentatorubral Pallidoluysian atrophy (DRPLA) | ATN1 | PCR and Triplet primed PCR for the common (CAG)n repeat expansion | £145.00 | 10 days |
| Ectodermal dysplasia with immunodeficiency | NEMO (IKBKG) |
Sequencing analysis of exons 2-10 | £295.00 |
40 days |
| Emery Dreifuss muscular dystrophy, X linked (EDMD) | Emerin | Sequencing of exons 1-6 | £295.00 | 40 days |
| Factor V Leiden | FVL | R534Q (R506Q) mutation | £99.00 | 10 days |
| Factor VII deficiency | F7 | Sequencing of exons 1-8 | £295.00 | 40 days |
| Factor VIII deficiency (Haemophilia A) | F8 | Multiplex inverse PCR for intron 22 and intron 1 inversions | £145.00 | 10 days |
| Sequencing of exons 1-26 | £625.00 | 40 days | ||
| Dosage analysis | £175.00 | 10 days | ||
| Factor IX deficiency (Haemophilia B) |
F9 | Sequencing of exons 1-8 | £295 | 40 days |
| Dosage analysis | £175 | 10 days | ||
| Factor X deficiency | F10 | Sequencing of exons 1-8 | £295.00 | 40 days |
| Factor XI deficiency | F11 | Sequencing of exons 1-15 | £415.00 | 40 days |
| Factor XIII deficiency | F13A1 | Sequencing of exons 2-15 | £415.00 | 40 days |
| Familial dysalbuminaemic hyperthyroximaemia (FDH) | Albumin (ALB) | Sequencing of exon 7 for p.Arg242His and p.Arg242Pro mutations only | £100.00 | 40 days |
| Familial dysautonomia (FD) | IKBKAP | Test for common c.2204+6T>C mutation only | £145 | 10 days |
| Sequencing of exons 2-37 | £625 | 40 days | ||
| FG syndrome (Opitz Kaveggia) | MED12 | Sequencing of exon 21 for c.2881C>T (p.Arg961Trp) mutation only | £99.00 | 40 days |
| Fibrochondrogenesis | COL11A1 | Sequencing and dosage analysis of exons 1-67 | £850.00 | 40 days |
| Focal and segmental glomerulosclerosis (FSGS) | ACTN4 | Sequencing of exon 8 only | £99.00 | 40 days |
| Fragile X associated tremor ataxia (FXTAS) | FMR-1 | PCR and Triplet primed PCR for the common (CGG)n premutation expansion | £145.00 | 10 days |
| PCR and Southern blot analysis for the common (CGG)n premutation expansion | £175.00 | 40 days | ||
| Fragile X syndrome (FraX) | FMR-1 | PCR and Triplet primed PCR for the common (CGG)n repeat expansion | £145.00 | 10 days |
| PCR and Southern blot analysis for the common (CGG)n repeat expansion | £175.00 | 40 days | ||
| Friedreich ataxia (FRDA) | Frataxin (FXN) | PCR and Triplet primed PCR for the common (GAA)n repeat expansion | £145.00 | 10 days |
| Frontotemporal dementia with Parkinsonism (FTDP-17) | MAPT | Sequencing and dosage analysis OF exons 1-13 | £415.00 | 40 days |
| Gitelman syndrome (GMS) | SLC12A3 | Sequencing and dosage analysis of exons 1-26 | £625.00 | 40 days |
| Glucorticoid remediable aldosteronism (GRA, Hyperaldosteronism) | CYP11B1/CYP11B2 | Unequal crossover of CYPB11B1/CYP11B2 | £99.00 | 10 days |
| Gonadal dysgenesis (SRY-related) | SRY | Sequencing of exon 1 only | £145.00 | 40 days |
| Diplex for SRY and AMEL | £145.00 | 40 days | ||
| GRN related frontotemporal dementia (GRN-FTD) | Progranulin (PGRN) | Sequencing of exons 0 (untranslated), and 1-12 & dosage analysis of exons 0, 2, 5, 9 and 11 | £415.00 | 40 days |
| Haemochromatosis type 1 (HFE1) | HFE1 | PCR analysis of C282Y and H63D mutations | £99.00 | 10 days |
| Haemochromatosis type 2A and 2B (HFE2A, HFE2B) | Hemojuvelin (HJV) and Hepcidin antimicrobial peptide (HAMP) | Sequencing of HJV exons 2-4 and HAMP exons 1-3 | £295.00 | 40 days |
| Haemochromatosis type 4 (HFE4) | SLC40A1 (ferroportin) | Sequencing of exons 1-8 | £295.00 | 40 days |
| Hereditary Fructose Intolerance (HFI) | Aldolase B (ALDOB) | Sequencing and dosage analysis of exons 2-9 | £295.00 | 40 days |
| Hereditary Non Polyposis Colon Cancer (HNPCC) | MLH1, MSH2 and MSH6 | Sequencing and dosage analysis of two genes | £625.00 | 40 days |
| Sequencing and dosage analysis of MLH1 exons 1-19 | £475.00 | 40 days | ||
| Sequencing and dosage analysis of MSH2 exons 1-16 | £415.00 | 40 days | ||
| Sequencing and dosage analysis of MSH6 exons 1-10 | £475.00 | 40 days | ||
| Hereditary, sensory and autonomic neuropathy type 3 (HSAN3) | IKBKAP | Test for common c.2204+6T>C mutation only | £145 | 10 days |
| Sequencing of exons 2-37 | £625 | 40 days | ||
| Hereditary sensory and autonomic neuropathy type IV (HSAN IV) | NTRK1 | Sequencing of exons 1-17 | £415.00 | 40 days |
| Hereditary sensory and autonomic neuropathy type V (HSAN V) | NGFB | Sequencing of exon 3 | £175.00 | 40 days |
| Huntington disease (HD) | HTT | PCR and Triplet primed PCR for the common (CAG)n repeat expansion | £145.00 | 10 days |
| Linkage analysis for prenatal exclusion testing | £415.00 | 40 days | ||
| Hyperuricaemic nephropathy, familial juvenile (HNF1) | FJHN | Sequencing of exons 4, 5 and 6 | £175.00 | 40 days |
| Hypothyroidism, congenital (TSHR) | Thyroid-stimulation hormone receptor (TSHR) | Sequencing and dosage analysis of exons 1-10 | £415.00 | 40 days |
| Incontinentia pigmenti type 2 (IP; Bloch-Sulzberger syndrome) | NEMO (IKBKG) | PCR across the common deletion of exons 4-10 | £145.00 | 10 days |
| Sequencing analysis of exons 2-10 | £295.00 |
40 days |
||
| IRAK4 deficiency | IRAK4 | Sequencing of exons 2-12 | £295.00 | 40 days |
| Kniest dysplasia | COL2A1 | Sequencing and dosage analysis of exons 1-54 | £850.00 | 40 days |
| Liddle syndrome (Pseudoaldosteronism) | SCNN1B; SCNN1G | Sequencing of exon 12 in both genes | £145.00 | 40 days |
| Lipodystrophy, congenital generalised type 1 (CGL1) | AGPAT2 | under development | £295 | 40 days |
| Lipodystrophy, congenital generalised type 2 (CGL2) | BSCL2 | under development | £295 | 40 days |
| Lipodystrophy, familial partial type 2 (FPLD2) | LMNA | under development | £415 | 40 days |
| Lipodystrophy, familial partial type 3 (FPLD3) | PPARG | under development | £295 | 40 days |
| Medullary cystic kidney disease 2 (MCKD2) | UMOD | Sequencing of exons 4, 5 and 6 | £175.00 | 40 days |
| Mendelian susceptibility to mycobacterial disease (MSDM) | IFNGR1 | Sequencing of exons 1-7 | £295 | 40 days |
| IFNGR2 | Sequencing of exons 1-7 | £295 | ||
| IL12RB1 | Sequencing of exons 1-17 | £415 | ||
| IL12P40(B) | Sequencing of exons 1-6 | £295 | ||
| NEMO (IKBKG) | Sequencing of exons 2-10 | £295 | ||
| STAT1 | under development | |||
| TYK2 | under development | |||
| Myotonic dystrophy type 1 (DM1) | DMPK | PCR and Triplet primed PCR for the common (CAG)n repeat expansion | £145.00 | 10 days |
| Southern blot analysis for the common (CAG)n repeat expansion | £175.00 | 40 days | ||
| Otospondylomegaepiphyseal dysplasia (OSMED) | COL11A2 | Sequencing of exons 1-66 | £850.00 | 40 days |
| Paroxysmal pain disorder (excess pain) | SCN9A | Sequencing of exons 1-26 | £625 | 40 days |
| Prader Willi syndrome (PWS) | SNRPN | Methylation analysis using bisulphite PCR | £145.00 | 10 days |
| Methylation and dosage analysis using bisulphite PCR and MLPA | £175.00 | 10 days | ||
| UPD15 studies | £415.00 | 40 days | ||
| Prothrombin gene mutation | PTG | *97G>A (G20210A) mutation | £99.00 | 10 days |
| Polycystic kidney disease type 1, autosomal dominant | PKD1 | Dosage analysis | £175.00 | 10 days |
| Linkage analysis for PKD1 and PKD2 | £415.00 | 40 days | ||
| Polycystic kidney disease type 2, autosomal dominant (APKD2) | PKD2 | Sequencing of exons 1-15 | £475.00 | 40 days |
| Dosage analysis | £175.00 | 40 days | ||
| Linkage analysis for PKD1 and PKD2 | £415.00 | 40 days | ||
| Primary microcephaly, autosomal recessive type 2 | WDR62 (MCPH2) | under development | 40 days | |
| Primary microcephaly, autosomal recessive type 5 | ASPM (MCPH5) | Sequencing of exons 1-26 | £625.00 | 40 days |
WDR62 (MCPH2) |
Sequencing of exons 1-32 and dosage analysis of exon 1 only |
£625.00 | 40 days |
|
| Rabson Mendenhall syndrome (Pineal dysplasia, insulin-resistant diabetes mellitus and somatic abnormalities) | INSR | Sequencing and dosage analysis of exons 1-22 | £475.00 | 40 days |
| Renal tubular acidosis, distal, autosomal recessive (RdRTA) | ATP6V0A4 | 40 days | ||
| Renal tubular acidosis, distal with progressive sensorineural deafness | ATPV1BI | 40 days | ||
| Renal tubular acidosis, distal, autosomal dominant (dRTA) | SLC4A1 | Sequencing of exons 14, 15 and 20 | £175.00 | 40 days |
| Retinoschisis, X linked | RS1 | Sequencing of exons 1-6 | £295.00 | 40 days |
| Dosage analysis | £175.00 | 10 days | ||
| Spondyloepiphyseal dysplasia congenita (SEDC) | COL2A1 | Sequencing and dosage analysis of exons 1-54 | £850.00 | 40 days |
| SCN9A related pain disorders | SCN9A | Sequencing of exons 1-26 | £625.00 | 40 days |
| Spinal bulbar muscular atrophy (SBMA) | Androgen receptor (AR) | PCR and Triplet primed PCR for the common (CAG)n repeat expansion | £145.00 | 10 days |
| Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 and 17 | ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP | PCR and Triplet primed PCR for the common (CAG)n repeat expansion | £175.00 | 10 days |
| Single SCA analysis | £145.00 | 10 days | ||
| Steroid 5-alpha-reductase deficiency | SRD5A2 | Sequencing and dosage analysis of exons 1-5 | £295.00 | 40 days |
| Sticker syndrome type 1 (STL1) (NCG funded for patients in England) | COL2A1 | Sequencing and dosage analysis of exons 1-54 | £850.00 | 40 days |
| Stickler syndrome type 2 (STL2) (NCG funded for patients in England) | COL11A1 | Sequencing and dosage analysis of exons 1-67 | £850.00 | 40 days |
| Stickler syndrome type 3 (STL3) | COL11A2 | Sequencing of exons 1-66 | £850.00 | 40 days |
| Thyroid hormone resistance, autosomal dominant (THR) | THRb | Sequencing of exons 7-10 | £180.00 | 40 days |
| Tuberous sclerosis complex (TSC) | TSC1 and TSC2 | Sequencing and dosage analysis of TSC1 exons 3-23 and TSC2 exons 1-41 | £850.00 | 40 days |
| Type A insulin resistance (Diabetes mellitus, insulin-resistant with acanthosis nigricans) | INSR | Sequencing and dosage analysis of exons 1-22 | £475.00 | 40 days |
| Uromodulin nephropathy | UMOD | Sequencing of exons 4, 5 and 6 | £175.00 | 40 days |
| Von Hippel Lindau syndrome (VHL) | VHL | Sequencing and dosage analysis of exons 1-3 | £295.00 | 40 days |
| Von Willebrand disease types 1, 2 and 3 | VWF | Sequencing and dosage analysis of exons 2-52 | £850.00 | 40 days |
| Von Willebrand disease type 2N | VWF | Sequencing and dosage of exons 18-24 | £415.00 | 40 days |
Paternity testing
Paternity testing is not routinely performed by the laboratory.
Please contact us for more information.
Tel: 01223 348 866
See also:
> DNA extraction and sequencing service
> Sample requirements and test request card
Last updated: Tuesday 27 March 2012
