Test Code Test Name Gene / Region Examined Analysis Method Sample Type Sample Amount Delivery Time
332027 Galactokinase deficiency GALK1 - Exon 3, GALK1 - Exon 4, GALK1 - Exon 5, GALK1 - Exon 6, GALK1 - Exon 7, GALK1 - Exon 8 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
332026 Galactosemia GALT - Exon 1, GALT - Exon 10, GALT - Exon 11, GALT - Exon 2, GALT - Exon 3, GALT - Exon 4, GALT - Exon 5, GALT - Exon 6, GALT - Exon 7, GALT - Exon 8, GALT - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53300506 Gaucher Disease GBA - Exon 1, GBA - Exon 10, GBA - Exon 11, GBA - Exon 2, GBA - Exon 3, GBA - Exon 4, GBA - Exon 5, GBA - Exon 6, GBA - Exon 7, GBA - Exon 8, GBA - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331880 Gender Development Disorder SRY - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
333187 Gender Development Disorder / Campomelic Dysplasia SOX9 - Exon 1, SOX9 - Exon 2, SOX9 - Exon 3 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
3302008 Genetiks New Generation Diagnostic Panel-CES Next Generation Sequence EDTA blood 2-3 ml 45
331946 Genotyping (Before Freezing)-DNA Identification STR Analysis Fragment analysis EDTA blood 2-3ml 15
3300578 Glycine encephalopathy - MLPA Analysis GLDC - Deletion/Duplication MLPA Analysis AS, CVS, EDTA blood 2-3ml 21
3300594 Glycogen storage disease Ib / Ic SLC37A4 - Exon 2, SLC37A4 - Exon 3, SLC37A4 - Exon 4, SLC37A4 - Exon 5, SLC37A4 - Exon 6, SLC37A4 - Exon 7, SLC37A4 - Exon 8, SLC37A4 - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331280 Glycogen Storage Disease Type 2 (Pompe) GAA - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
332028 Glycogen Storage Disease Type1A (Von Gierke) G6PC - Exon 1, G6PC - Exon 2, G6PC - Exon 3, G6PC - Exon 4, G6PC - Exon 5 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
5000102 Glycogen Storage Diseases Panel AGL, ENO3, G6PC1, GAA, GBE1, GYS2, LDHA, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PYGL, PYGM, SLC37A4 Next Generation Sequence EDTA blood 2-3 ml 45
3300584 Glycosylphosphatidylinositol deficiency PIGM - Exon 1 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
332050 Griscelli Syndrome Type 2 RAB27A - Exon 2, RAB27A - Exon 3, RAB27A - Exon 4, RAB27A - Exon 5, RAB27A - Exon 6 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
3332007 H3F3A gene Mutationu (K27M-G34A) G34A, K27M DNA Analysis FFPE, Fresh Tumor Tissue 10
3332018 Hemochromatosis HFE - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3ml 10
330049 Hemochromatosis HFE - C282Y, HFE - H63D, HFE - S65C Sequence analysis AS, CVS, EDTA blood 2-3ml 10
3300586 Hemofagositik lenfohistiyoz, ailevi, 2 PRF1 - Exon 1, PRF1 - Exon 2, PRF1 - Exon 3, PRF1 - Exon 4 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
332035 Hemolytic anemia, G6PD Failure G6PD - Exon 10, G6PD - Exon 11, G6PD - Exon 12, G6PD - Exon 13, G6PD - Exon 2, G6PD - Exon 3, G6PD - Exon 4, G6PD - Exon 5, G6PD - Exon 6, G6PD - Exon 7, G6PD - Exon 8, G6PD - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
3300596 Hemophagocytic lymphohistiocytosis, familial, 4 STX11 - Exon 2 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40

"The essence of evolutionary biology is that, just as our genetic material guides us, we also have the potential to guide it."

Richard Dawkins