Genetic Tests

Genetic Test

21 – Hydroxylase Deficiency, CAH
Genetic Test
Samples Required

21-Hydroxylase deficiency (most mutations)
Genetic Test
Samples Required

21-Hydroxylase deficiency whole gene NGS
Genetic Test
Samples Required

21-Hydroxylase, CYP21B single mutation
Genetic Test
Samples Required
LS

3 Pathogens Molecular Search (single sample)
Genetic Test
Samples Required

5 Alpha Reductase deficit (SRD5A-2)
Genetic Test
Samples Required

5HTT genotyping, 5HTTPLR, SLC6A4
Genetic Test

A – Thalassaimia
Genetic Test
Samples Required

ABCA4 whole gene NGS
Genetic Test
Samples Required

ABCB1 (C3435T), MDR1, Metabolism taxan derivatives
Genetic Test

ABETALIPOPROTEINEMIA (ABL)
Genetic Test
Samples Required

ABL1 (T315I), ABL, Resistance to Tyrosine Kinase Inhibitors (TKI)