List of diseases covered by Hereditary Sideroblastic Anemia NGS panel

Published 02/02/2018

List of diseases covered by
Hereditary Sideroblastic Anemia NGS panel

Gene Condition
ABCB7 Anemia sideroblastic and spinocerebellar ataxia
ALAS2 Hereditary sideroblastic anemia
GLRX5 Sideroblastic anemia 3, pyridoxine-refractory
HSPA9 Anemia, sideroblastic, 4
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
SLC19A2 Megaloblastic anemia, thiamine-responsive,
with diabetes mellitus and sensorineural deafness
SLC25A38 Anemia, sideroblastic, pyridoxine-refractory,
autosomal recessive
TRNT1 Sideroblastic anemia with B-cell immunodeficiency,
periodic fevers, and developmental delay;
Retinitis pigmentosa and erythrocytic microcytosis
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

Hereditary Sideroblastic Anemia NGS panel

Published 18/01/2018

Hereditary Sideroblastic Anemia NGS panel

Genes
(full coding
region):		 ABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form