Tests
|
| Sample |
Service |
Quality
Standards |
 |
| |
|
Mean
Reporting Time |
Reporting |
Amniotic Fluid
Sample Requirements
|
QF-PCR Screening for Aneuploidies.
Culture & karyotyping.
|
2-4 days
13 days |
Normal Results:
by Facsimile and Post.
Abnormal Results:
by Telephone, Facsimile and Post.
|
CVS
Sample Requirements |
QF-PCR Screening for Aneuploidies.
Culture & karyotyping
Dissection and referral to centres for DNA / enzyme
tests. (Costs for these tests to be borne by the user).
|
PCR: 2-4 Days
Culture: 13-Days
|
Normal Results:
by Facsimile and Post.
Abnormal Results:
by Telephone, Facsimile and Post. |
Fetal Blood
Sample Requirements
|
Culture & karyotyping |
6-Days |
Normal Results:
by Telephone and Facsimile
Abnormal Results:
by Telephone and Facsimile
|
|
Blood
Urgent
Neonatal
(Trisomy Screening)
|
Culture
& karyotyping |
8-Days |
Neonatal:
by Telephone,
Facsimile and/or post
|
Parental
Confirmation of Karyotype (Prenatal)
|
|
|
All Others:
by Telephone / Facsimile / Post as required
depending upon case circumstances.
|
|
FH of Chromosome Defect (Prenatal Request)
|
|
|
All
Other Bloods
Sample Requirements
Top of page |
Culture
& karyotyping |
28-Days |
by Post
(or Facsimile if Requested).
|
Bone Marrows
Sample Requirements |
Culture & karyotyping |
AML: 14-Days
CML: 14-Days
ALL: 14-Days
MDS: 21-Days
MPD: 21-Days
|
by Telephone / Facsimile / Post as required. |
|
Tissue
Sample Requirements
Products of Conception
Fetal Tissues
|
Culture & karyotyping
|
28-Days |
by Telephone / Facsimile /
Post as required. |
Liveborn
Skin Biopsies
|
Culture, Karyotyping
& Cell Banking
Referral to centres for DNA / enzyme tests. (Costs to be borne by
the user). |
28-Days |
Storage:
in Liquid Nitrogen.
Despatch:
Surface Courier or Air as Required.
|
Solid Tumours
Sample Requirements
Top of page |
Culture, Karyotyping & Cell Banking
|
|
All Samples as Required |
Fluoresence Insitu Hybridisation studies including:
Specific tests in leukaemia
Rapid screening for:
Down Syndrome
Di George/VCF
Alphoid Repeats
Chromosome Paints
Telomere Sequences
Cosmids to Unique
Sequences and Following
Syndromes:
Di George / VCF, William's,
Wolf-Hirschhorn,
Cri du Chat,
Prader Willi / Angelman, Miller-Dieker, Retinoblastoma,
Smith-Magenis.
|
|
by Post / Facsimile.
|
|
Clinical Interpretation
|
Full diagnosis, prognosis and further recommendations made. The
department has a wide literature source available in-house from
journals and computer databases.
|
Cytogenetic
Service
