Specimen Requirements & TAT

CYTOGENETIC Test TAT Sample Type Specimen Requirements Storage Shipping Viability of Sample
Blood 10 wd Lithium Heparin (green top) Adults: 2ml

 Infant: 1-2ml

 2-8°C

DO NOT FREEZE

 Room temperature.

Avoid extreme temperatures.

 3-5 days
Bone Marrow 10-12 wd Lithium Heparin (green top) 1.5-2ml 2-8°C

DO NOT FREEZE

 Room temperature.

Avoid extreme temperatures.

 3-4 days
Amniotic fluid 12-15 wd In sterile polystyrene greiner/falcon container 15ml 2-8°C

DO NOT FREEZE

 Room temperature.

Avoid extreme temperatures.

 3-4 days
CVS tissue 12-15 wd In sterile transport medium (Contact UNISTEL: sterile transport medium is obtainable from the laboratory) 10-20mg 2-8°C

DO NOT FREEZE

 Room temperature.

Avoid extreme temperatures.

 1-2 days
Tissue 15 wd Fetus stillborn/fetal tissue or placenta in sterile transport medium

Products of conception (POC) in Heparin tube

 Contact UNISTEL: sterile transport medium is obtainable from the laboratory. POC can be in mother’s blood. 2-8°C

DO NOT FREEZE

 Room temperature.

Avoid extreme temperatures.

 1 day

# Contact UNISTEL: Sterile transport medium and Guthrie cards are obtainable from the laboratory.

MOLECULAR CYTOGENETICS (FISH) Test TAT Sample Type Specimen Requirements Storage Shipping Viability of Sample
Prenatal  2-4 wd Amniotic fluid

Chorionic villi

Cord blood

 3-5ml Sterile Falcon tube or culture flask Avoid extreme temperatures Room temperature 4 days
Micro-deletion 12-14 wd  Blood 1ml Lithium Heparin Avoid extreme temperatures Room temperature 10 days
Haematological  malignancies    10 wd Blood

Bone Marrow

 2ml EDTA or Lithium Heparin Avoid extreme temperatures Room temperature 1 week
Chronic Lymphocytic  Leukaemia (CLL)    10 wd Blood (preferred)

Bone Marrow

 2ml EDTA or Lithium Heparin Avoid extreme temperatures Room temperature 3 days
Multiple myeloma   10 wd Bone Marrow >3ml EDTA or Lithium Heparin Avoid extreme temperatures Room temperature 4 days
Acute Promyelocytic  Leukaemia (APL)   1 wd Blood

Bone Marrow

 2ml EDTA or Lithium Heparin Avoid extreme temperatures Room temperature as promptly as possible. 1 week
Solid tumors  10 wd Fixed Formalin Paraffin-Embedded (FFPE)
  • 3 positively charged slides
  • Invasive area marked on accompanying H&E slide
  • 1-3 µm of FFPE tumour
  • Slide labelled with two identifiers
 Avoid extreme temperatures Room temperature N/A
Smears    10 wd Bone Marrow >6 slides Avoid extreme temperatures Room temperature 1-2 weeks

*Please note that the malignant line may not be detected if samples are aged.

MOLECULAR GENETICS Test TAT Sample Type Specimen Requirements Storage Shipping Viability of Sample
Achondroplasia FGFR3   10 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Alpha-1-antitrypsin (AAT)    3 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Apolipoprotein B (APO B) genotyping    10 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Apolipoprotein E (APO E) genotyping    3 wd EDTA Blood  3-5ml 2-8°c Room temperature 3-7 days

Array Comparative Genomic

Hybridization (aCGH)

– Prenatal New

 2-4 weeks Amniotic fluid/EDTA Cord blood

10ml amniotic fluid

1ml cord blood

 2-8°c Room temperature 3-4 days

Array Comparative Genomic

Hybridization (aCGH)

– Postnatal New

 3-4 weeks EDTA blood 4-5ml 2-8°c Room temperature 3-4 days

Array Comparative Genomic

Hybridization (aCGH)

– Products of conception New

 3-4 weeks Products of conception (POC)

Fetal tissue or placenta in saline

Fetal tissue or placenta in saline

 2-8°c Room temperature 3-4 days
BRAF/NRAS   10 wd EDTA Blood/Bone Marrow,

Tissue Shavings/Tissue block

 3-5ml

1x full 1.5ml Eppendorf tube

 2-8°C

Room temperature

 Room temperature 3-7 days

 

N/A
BRCA1/BRCA2 – 7 mutations   10 wd EDTA Blood  3-5ml 2-8°c Room temperature 3-7 days
 CALR & MPL     7 wd EDTA Blood/Bone Marrow,

Tissue Shavings/Tissue block

 3-5ml

1x full 1.5ml Eppendorf tube

 2-8°C

Room temperature

 Room temperature 3-7 days

 

N/A
 Connexin 26 & 30    10 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
 Cystic fibrosis (CF) 33   Mutations    7  wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
 Cystic fibrosis (CF) delta   F508 mutation      3 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
 Chimerisms     7 wd EDTA Blood/Bone Marrow 3-5ml 2-8°c Room temperature 3-7 days
 Factor V Leiden (FV)     3 wd EDTA Blood 3-5ml 2-8°c Room temperature 3-7 days
Familial   Hypercholesterolemia (FH)      3 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Fanconi anemia    15 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
FLT3 & NPM1      7 wd EDTA Blood/Bone Marrow  3-5ml 2-8°c Room temperature 3-7 days
Fragile-X     11 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
HLA-B27 for Ankylosing   Spondylitis      2 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Hemachromatosis (HH)      3 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Huntington Disease (HD)      7 wd EDTA Blood 3-5ml 2-8°c Room temperature 3-7 days

IGHV Somatic

Hypermutation Assay New

 10-15 wd EDTA Blood/Bone Marrow 3-5ml 2-8°c Room temperature 3-7 days

JAK2 V617F

Quantitative Testing New

 3-5 wd EDTA Blood/Bone Marrow

Adult: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
JAK2       5 wd EDTA Blood/Bone Marrow Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Leber’s hereditary optic neuropathy (LHON)      5 wd EDTA Blood 3-5ml 2-8°c Room temperature 3-7 days
MYD88      7 wd EDTA Blood/Bone Marrow,

Tissue Shaving/Tissue block

 3-5ml

1x full 1.5ml Eppendorf tube

 2-8°C

Room temperature

 Room temperature 3-7 days

 

N/A
Microdeletions MLPA  10 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Paternity   7 wd Blood spots on Guthrie cards

EDTA Blood

Buccal Swabs

 Adults: 3-5ml

Infants: 1-2ml

 2-8°C

Room temperature

 Room temperature      N/A

3-7 days

<7 days
Prader-Willi/ Angelman’s Syndrome MLPA (PW/AS)   15 wd EDTA Blood  1-5ml 2-8°c Room temperature 3-7 days
Prothrombin (PT)   3 wd EDTA Blood 3-5ml 2-8°c Room temperature 3-7 days
QF-PCR for Amniotic Fluid/CVS/Cord Blood/Blood 2 wd, done ASAP EDTA Blood

Cord Blood

Amniotic Fluid

CVS

 3-5ml

1-2ml

4ml

Also provide mother’s blood to exclude maternal cell contamination.

 2-8°c Room temperature 3-7 days
QF-PCR for products of conception   10 wd Products of Conception (POC) Fetal tissue or placenta in saline (formaline not acceptable). 2-8°c Room temperature 10 days
Variegate Porphyria (VP)    3 wd EDTA Blood Adults: 3-5ml

Infants: 1-2ml

 2-8°c Room temperature 3-7 days
Y-Chromosome deletion     5 wd EDTA Blood 3-5ml 2-8°c Room temperature 3-7 days
Molecular Cytogenetics Test TAT Sample Type Specimen Requirements
Prenatal 2-4 wd Amniotic fluid
Chorionic villi
Cord blood		 3-5 ml
Micro-deletion 12-14 wd Blood 1ml
Haematological malignancies 10 wd Blood
Bone Marrow		 2ml
Multiple myeloma 10 wd Bone Marrow >3ml
Solid tumors 10-14 wd FFPE
  • 4 positively charged slides
  • Invasive area marked on accompanying H&E slide
  • 1-3 µm of FFPE tumour
  • Slide labelled with two identifiers