3/20/2023: This test order is currently unavailable. To order a referred alternate, place a MSO order for LabCorp (482370) GeneSeq PLUS
Identification of carrier and affected individuals for the 2281del6ins7 mutation associated with Bloom syndrome in the Ashkenazi Jewish population.
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting
Lavender (EDTA), 4mL
Whole blood:
Yellow ACD (A or B)
Amniotic fluid/CVS:
Sterile vial
Yellow ACD (A or B)
Amniotic fluid: Sterile vial
CVS: two confluent T-25 flasks
Molecular Medicare billing request
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.
Ambient
Refrigerated
Polymerase chain reaction (PCR), primer extension and flow-sorted bead
An interpretive report will be included
Prenatal testing is available. Bloom syndrome (OMIM 210900) is a rare autosomal recessive disorder that is characterized by small stature, photo-sensitivity, chromosomal instability, immunodeficiency, and a predisposition to develop multiple cancers. In the Ashkenazi Jewish population, the carrier frequency is approximately 1 in 104 individuals.
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.