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Prevention Genetics #286 GATA2 Gene
Messagehttp://preventiongenetics.com/clinical-dna-testing/requisition-forms/
Test Code
286
Preferred Specimen
Whole Blood 5 mL
Minimum Volume
2 mL
Other Acceptable Specimens
"ACD (yellow top tube). (DNA, Cell Culture) DNA
(Delivery accepted Monday - Saturday)
Send in a screw cap tube at least 15 µg of purified DNA at a concentration of at least 20 µg/ml. For tests involving the sequencing of more than three genes, send an additional 5 µg DNA per gene. DNA may be shipped at room temperature.
Label the tube with the DNA concentration as well as the patient name, date of birth, and/or ID number.
Specify the composition of the solute.
We only accept genomic DNA for testing. We do not accept products of whole genome amplification reactions or other amplification reactions.
Cell Culture
(Delivery accepted Monday - Thursday)
PreventionGenetics should be notified in advance of arrival of a cell culture.
Ship at least two T25 flasks of confluent cells.
Label the flasks with the patient name, date of birth, and/or ID number.
We do not culture cells.
"
(Delivery accepted Monday - Saturday)
Send in a screw cap tube at least 15 µg of purified DNA at a concentration of at least 20 µg/ml. For tests involving the sequencing of more than three genes, send an additional 5 µg DNA per gene. DNA may be shipped at room temperature.
Label the tube with the DNA concentration as well as the patient name, date of birth, and/or ID number.
Specify the composition of the solute.
We only accept genomic DNA for testing. We do not accept products of whole genome amplification reactions or other amplification reactions.
Cell Culture
(Delivery accepted Monday - Thursday)
PreventionGenetics should be notified in advance of arrival of a cell culture.
Ship at least two T25 flasks of confluent cells.
Label the flasks with the patient name, date of birth, and/or ID number.
We do not culture cells.
"
Instructions
For small babies, we require a minimum of 1 ml of blood
Transport Container
EDTA (purple top tube)
Transport Temperature
room temperature in an insulated container. Do not freeze blood. During hot weather, include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube. In cold we
Specimen Stability
"At room temperature, blood specimen is good for up to 48 hours.
If refrigerated, blood specimen is good for up to one week
"
If refrigerated, blood specimen is good for up to one week
"
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Frozen, insufficient quantity
Setup Schedule
Delivery accepted Monday - Saturday
Report Available
Maximum of 40 days, although many tests are completed in 2-3 weeks
Limitations
"Any copy number changes smaller than 300bps (within the targeted region) may not be detected by our array.
This array may not detect deletion and amplification mutations present at low levels of mosaicism or those present in genes that have pseudogene copies or repeats elsewhere in the genome.
aCGH will not detect balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype
Breakpoints, if happened outside the targeted gene, may be hard to define.
The sensitivity of this assay may be reduced when DNA is extracted by an outside laboratory."
This array may not detect deletion and amplification mutations present at low levels of mosaicism or those present in genes that have pseudogene copies or repeats elsewhere in the genome.
aCGH will not detect balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype
Breakpoints, if happened outside the targeted gene, may be hard to define.
The sensitivity of this assay may be reduced when DNA is extracted by an outside laboratory."
Clinical Significance
Acute myeloid leukemia (AML; OMIM 601626) is the most common form of adult leukemia (Vardiman et al. Blood 114:937, 2009) and myelodysplastic syndrome (MDS; OMIM 614286) is a clonal disorder of hematopoietic stem cells that can progress to AML. MDS and AML are most commonly sporadic, but have recently been described in conjunction with several rare familial disorders involving mutations in the GATA2 gene. These disorders include Emberger syndrome (OMIM 614038) (Ostergaard et al. Nat Genet 43:929, 2011) and combined immunodeficiencies termed, dendritic cell, monocyte, B and NK lymphoid deficiency (aka DCML; OMIM 614172) (Dickinson, et al. Blood 118:2656, 2011), or monocytopenia and mycobacterial infection syndrome (aka MonoMAC) (Hsu et al. Blood 118:2653, 2011). DCML/MonoMAC is characterized by decreased or absent dendritic cells, monocytes, B and natural killer (NK) cells, and moderately low T cell numbers. Patients have an increased susceptibility to disseminated nontuberculous mycobacterial infections, viral infections (e.g. HPV), and fungal infections (Vinh et al. Blood 115:1519, 2010; Bigley et al. J Exp Med 208: 227, 2011). Emberger syndrome is characterized by primary lymphedema, deafness, and varying degrees of pancytopenia. Onset of Emberger syndrome and DCML/MonMac is usually in childhood followed by progression to MDS and AML over decades. Mutations in the GATA2 gene have also been identified in families with hereditary MDS/AML but no other hematopoietic defects (Hahn et al. Nat Genet 43: 1012, 2011).
