Download GENETIC TESTS

West Midlands Regional Genetics Laboratory
GENETIC TESTS
PRIVATE TESTS GUIDE PRICE LIST
(From 1 April 2012 until 31 March 2013)
GENETIC TEST*
Private Test
Price £
Amniotic fluid chromosome analysis
Amniotic fluid chromosome analysis + QF-PCR
QF-PCR
CVS (Long term)
CVS (Long term) + QF-PCR
Blood chromosome analysis (Constitutional)
FISH (Constitutional – one probe set)
Blood chromosome analysis + FISH (one probe set)
Blood chromosome analysis + CF carrier testing
Blood chromosome analysis + Fragile X molecular analysis
Skin culture and chromosome analysis
Skin culture chromosomes + FISH analysis (one probe set)
Bone marrow chromosome analysis
Chimaerism XY FISH:
- Whole sample
- Whole + T-cells
- Additional cell lineages £138 each
Chimaerism Molecular STR:
- Whole sample
- Whole + T-cells
- Additional cell lineages £257 each
Molecular cytogenetic (FISH) analysis
- One probe set
- Two probe sets
- Three probe sets
- Four probe sets/panels
- Microarray*
Molecular - Single tests
Single PCR tests
Single sequence test (e.g VHL)
Complex PCR tests – single sample (e.g. CF)
Others – Price below or upon application
Molecular - Multiple tests
e.g. Family Linkage with three markers
Others - Price below or upon application
Molecular - Mutation screen
e.g. VHL Full mutation screen*
e.g. BRCA Full mutation screen
Others - Price below or upon application
DNA extraction and storage (blood sample)
RNA extraction and storage
267
421
154
318
472
233
223
387
490
765
318
472
344
223
429
567
344
670
927
223
378
532
686
409
188
223
257
686
686
2060
69
85

* Other tests available on request.

Single case prices. Block contract prices with significant reductions can be negotiated.
PP Prices 2011 Short Summary v1.0
Authorised by: Graham Fews
ONLY VALID ON DAY OF PRINTING
Page 1 of 3
Date for Review: 31/03/12

Molecular tests prices depend on the disease, the type of test, size of gene, and the reason for
the test, e.g. test for a known mutation (typically £223); or a sequencing screen for an unknown
mutation screen (from £344 to £2060). Please contact the laboratory for specific tests.
However, further examples are provided below.

Discounted NHS prices are also available, with additional discounts in the West Midlands for
some tests in recognition of support from the RSSA (e.g. for CLL, Myeloma and Lymphoma
FISH tests; and NPM1, CEBPA and KIT mutation tests).

Combined tests on the same sample (e.g. Amnio chromosomes & QF-PCR benefit from 20%
discount).

**Molecular VHL tests for private patients from abroad have a 20% premium for University
costs above private patient costs (i.e. £686 for the molecular tests above).

Urgent samples can be accommodated with specifically agreed turnaround times
For more information, please contact the West Midlands Regional Genetics Laboratory on 0121
627 2710 (+44 121 6272710) or e-mail [email protected]
Disease/Gene Tested (not comprehensive):
Code
Disease
Single Gene Disorders (non-cancer):
ACH
Achondroplasia
AAT
Alpha-1- antitrypsin
ALS
Alstrom syndrome
ARC
ARC syndrome
AS
Angelman syndrome
BMD
Becker muscular dystrophy
BWS
Beckwith wiedeman syndrome
CF
Cystic fibrosis
CHARGE
CHARGE syndrome
CMT/HNPP
Charcot-marie tooth (HMSN)
CMT2 (Mitofusin)
CAH
Congenital adrenal hyperplasia
CX26
Non-syndromic hearing loss
DIDMOAD
Wolfram syndrome
DIS
Disomy studies (e.g. UPD7, UPD14)
DMD
Duchenne muscular dystrophy
DRPLA
FRX
Fragile X
FRDA
Friedreich ataxia
HD
Huntington disease
HH
Haemochromatosis
INAD
Infantile Neuroaxonal dystrophy
MICRO
MICRO syndrome
MPS
Multiple pterygium syndrome (CHRNG,
RAPSN, DOK7)
MYD
Myotonic dystrophy
Noonan
Noonan and Leopard syndrome
PHP
Panhypopituritism
PWS
Prader-Willi syndrome
Rett
Rett syndrome
RSS
Russell syndrome syndrome (H19
analysis)
SBMA
Kennedy’s disease
SCA
Spinocerebella ataxia
SLOS
Smith Lemli Opitz syndrome
PP Prices 2011 Short Summary v1.0
Authorised by: Graham Fews
ONLY VALID ON DAY OF PRINTING
Page 2 of 3
Price for:
Test for
known/specific
mutation (s)
223
257
223
223
334
223
223
257
223
223
223
223
223
223
257
223
188
188/532
188/376
188
223 or 343
223
223
223
188/343
223
188
334
223
223
188
188 (1 gene)
550 (5 genes)
223
Sequencing
unknown
mutation
1374
686
1374
334 to 842
686
669
344
670
686
1030
516 (each
gene)
516
686
498
516
Date for Review: 31/03/12
SMA
Spinal muscular atrophy
SOTOS
SOTOS syndrome
Single Gene Disorders (familial cancer syndromes):
BRCA1 & BRCA2
Hereditary breast/ovarian cancer
BHD
Burt Hogg Dube syndrome
FAP
Familial adenomatous polyposis
GACA
Gastric cancer
GS
Gorlin syndrome
HLRCC
Hereditary leiomyomatosis and renal cell
cancer
HNPCC
Hereditary non-polyposis colorectal ca.
HPRC
Hereditary papilliary renal cell ca.
MAP
MUTYH associated polyposis
MEN2
Multiple endocrine neoplasia type 2
MSI
Microsatellite instability
PJS
Peutz Jegher syndrome
PTEN
Cowden Disease
PP
SDHB, C and SDHD
223
223
1287
223
223
223
223
223
223
2060
669
1185
841
1185
516
223
223
223
223
335
223
223
223
1527
344
343
516
VHL**
von-Hippel-Lindau disease
Molecular Haematology:
RT-PCR or
BCR/ABL1; ETV6/RUNX1 (TEL/AML1);
RQ-PCR
RUNX1/RUNX1T1 (AML1/ETO);
PML/RARA; CBFB/MYH11;
Mutation detection
JAK2 V617F; FLT3-itd
Chimaerism
See table 1 above.
223
PP Prices 2011 Short Summary v1.0
Authorised by: Graham Fews
ONLY VALID ON DAY OF PRINTING
Page 3 of 3
670
670
842 (SDHB
and D), 669
(SDHC)
686
206
223
Date for Review: 31/03/12