|
TEST REQUIRED |
SPECIMEN TYPE |
CONTAINER |
VOLUME REQUIRED |
TRANSPORT/STORAGE |
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PLEASE DOWNLOAD AND USE GENETICS REQUEST FORM TO MAKE STANDARD REFERRALS (NOT PRENATAL TESTS)
SINGLE GENE DISORDERS (POSTNATAL) |
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SINGLE GENE DISORDERS (POSTNATAL) |
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DNA Testing Single gene / gene panel / exome |
Blood |
EDTA blood tube |
minimum 3ml adults/children (1ml newborn) |
1st class post (or Courier for urgents) |
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POSTNATAL TESTING |
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Karyotype and/or FISH |
Blood |
Lithium Heparin blood tube |
Minimum 2ml (1ml babies) |
Courier or 1st class post |
|
Array/QF-PCR |
Blood |
EDTA blood tube |
Minimum 3ml (1ml newborn) |
Courier or 1st class post (or Taxi for urgents) |
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PRENATAL TESTING |
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Rapid QF-PCR, Microarray, Karyotype, Single Gene testing |
Amniotic Fluid |
(2x) Sterile Universals |
8mls for culture + 8mls for DNA extraction |
Courier or taxi. Must arrive by 14.00 for same day processing. (refrigerate overnight if cannot have arrive before laboratory closing) |
|
Chorionic Villus |
Sterile Universals with transport media (available from laboratory) |
Minimum of 20-30mg |
Courier or Taxi. Must arrive by 14.00 for same day processing (refrigerate overnight if cannot have arrive before laboratory closing) |
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Parental Bloods Both for array, both preferred for QF-PCR but only Mat essential) |
Lithium Heparin blood tube + EDTA blood tube |
3ml |
Send with prenatal sample |
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TISSUES |
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QF-PCR, Array, DNA storage |
Products of Conception, Fetal tissue biopsy |
Sterile universal with transport media/saline |
Dependant on tissue type. Contact laboratory if unsure. |
MUST BE SENT TO PATHOLOGY NRIE (sample will be forwarded to Genetics). |
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Mosaicism score/Cryopreservation |
Skin Biopsy/Solid Tissue |
Send directly to Glasgow (West of Scotland Genetics Service) |
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ONCOLOGY |
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Karyotype, FISH, Array |
Bone Marrow Aspirate (Blood for CLL FISH etc) |
Sterile Universal with BM/biopsy media, available from laboratory (Lithium Heparin blood tube) |
Attempted processing of all sizes of samples. |
Courier or Taxi (Phone to inform laboratory before sending urgents) |
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Tumour/Lymph node |
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Paraffin Embedded Tissue Sections |
Mounted slides |
