List of diseases covered by Hereditary Sideroblastic Anemia NGS panel

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

Hereditary Sideroblastic Anemia NGS panel

Genes: ABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

List of diseases covered by the panel


Price / TAT: 1338 EUR / 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