Test Code	Test Name	Gene / Region Examined	Analysis Method	Sample Type	Sample Amount	Delivery Time
332008	IDH1 gene Sequence analysis	IDH1 Exon 4	DNA Analysis	Bone marrow (EDTA), FFPE	2-3 ml	10
332009	IDH2 gene Sequence analysis	IDH2 Exon 4	DNA Analysis	Bone marrow (EDTA), FFPE	2-3 ml	10
53331840	Idiopathic Generalized Epilepsy, GLUT1 deficiency	SLC2A1- Exon 1, SLC2A1- Exon 10, SLC2A1- Exon 2, SLC2A1- Exon 3, SLC2A1- Exon 4, SLC2A1- Exon 5, SLC2A1- Exon 6, SLC2A1- Exon 7, SLC2A1- Exon 8, SLC2A1- Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3332033	Immune Deficiency	MYD88 - L265P	Sequence analysis	EDTA blood	2-3ml	15
3300598	Immunodeficiency 74, COVID19-related, X-linked	TLR7 - Exon 3	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300597	Immunodeficiency 75	TET2 - Exon 10, TET2 - Exon 11, TET2 - Exon 3, TET2 - Exon 4, TET2 - Exon 5, TET2 - Exon 6, TET2 - Exon 7, TET2 - Exon 8, TET2 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331400	Isovaleric Acidemia	IVD - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300160	JAK2 DNA Analysis - Exon 12	JAK2 Exon 12	DNA Analysis	Blood (EDTA), Bone marrow (EDTA)	2-3 ml	10
330102	JAK2 DNA Analysis - V617F Mutation		DNA Analysis	Blood (EDTA), Bone marrow (EDTA)	2-3 ml	10
3300645	Kennedy Disease (X linked, repeat extension)	AR - CAG repat extension	Fragment analysis	EDTA blood	2-3 ml	21
3300437	KRAS gene Sequence analysis	KRAS Exon 1, KRAS Exon 2, KRAS Exon 3, KRAS Exon 4, KRAS Exon 5, KRAS Exon 6	DNA Analysis	Fresh Tumor Tissue, Paraffin block		21
331938	KRAS Mutation Analysis	KRAS Codon 117, KRAS Codon 12, KRAS Codon 13, KRAS Codon 146, KRAS Codon 59, KRAS Codon 61	DNA Analysis	FFPE, Fresh Tumor Tissue		15
3300382	Lactose intolerance, LCT Mutation Analysis	LCT/MCM6 - c.-13910C>T	Sequence analysis	EDTA blood	2-3ml	15
3300341	Leber hereditary optic neuropathy (LHON) mutation analysis	mtDNA - A52T, mtDNA - R340H, mtDNA -M64V	Sequence analysis	AS, CVS, EDTA blood	2-3ml	30
3300593	Leri-Weill dyschondrosteosis / Short stature, idiopathic familial	SHOX - Exon 2, SHOX - Exon 3, SHOX - Exon 4, SHOX - Exon 5, SHOX - Exon 6	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
333194	Li-Fraumeni Syndrome	TP53 - Exon 10, TP53 - Exon 11, TP53 - Exon 2, TP53 - Exon 3, TP53 - Exon 4, TP53 - Exon 5, TP53 - Exon 6, TP53 - Exon 7, TP53 - Exon 8, TP53 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331530	Lipoprotein Lipase Deficiency	LPL - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331440	Long QT Syndrome Type 1	KCNQ1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331420	Long QT Syndrome Type 2	KCNH2 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332049	Lymphoproliferative Syndrome	SH2D1A - Exon 1, SH2D1A - Exon 2, SH2D1A - Exon 3, SH2D1A - Exon 4	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."