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 |