Test Code Test Name Gene / Region Examined Analysis Method Sample Type Sample Amount Delivery Time
333019 Microdeletion FISH - Wolf-Hirschhorn FISH analysis Amnion, Chorioic villus, Cord Blood 15-20ml/-/2-3 ml 7
3300579 Microdeletion FISH - XIST (Xq13.2) FISH analysis Amnion, Chorioic villus, Cord Blood 15-20ml/-/2-3 ml 7
331957 Microsatellite Instability (MSI) Fragment analysis FFPE + Blood (EDTA), Fresh Tumor Tissue 2-3 ml 15
3300599 Mitochondrial DNA depletion syndrome 1 (MNGIE type) TYMP - Exon 10, TYMP - Exon 2, TYMP - Exon 3, TYMP - Exon 4, TYMP - Exon 5, TYMP - Exon 6, TYMP - Exon 7, TYMP - Exon 8, TYMP - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
3300432 Mitochondrial Genome Analysis (mtDNA) Sequence analysis EDTA blood 2-3 ml 45
53331380 MODY Type 1 HNF4A - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331390 MODY Type 10 INS - Whole Gene Sequence analysis EDTA blood 2-3 ml 40
53330950 MODY Type 11 BLK - Exon 1, BLK - Exon 10, BLK - Exon 11, BLK - Exon 12, BLK - Exon 13, BLK - Exon 2, BLK - Exon 3, BLK - Exon 4, BLK - Exon 5, BLK - Exon 6, BLK - Exon 7, BLK - Exon 8, BLK - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331430 MODY Type 13 KCNJ11 - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53330890 MODY Type 14 APPL1 - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331290 MODY Type 2 GCK - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331360 MODY Type 3 HNF1A - Exon 1, HNF1A - Exon 10, HNF1A - Exon 2, HNF1A - Exon 3, HNF1A - Exon 4, HNF1A - Exon 5, HNF1A - Exon 6, HNF1A - Exon 7, HNF1A - Exon 8, HNF1A - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331650 MODY Type 6 NEUROD1 - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331450 MODY Type 7 KLF11 - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331010 MODY Type 8 CEL - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
3300408 Molecular Karyotyping --Prenatal-Illumina 720K Molecular Karyotyping *** SNP Array CVS, Amniocentesis, Kord Bloodı (EDTA) 5-6 ml 10 ml 15 mg 21
3300406 Molecular Karyotyping-Postnatal-Illumina 720K SNP Array Peripheral Blood (Heparin) (EDTA) 2-3ml 28
53331760 Monogenec Obesity POMC - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
53331480 Monogenec Obesity, Leptin Deficiency LEP - Whole Gene Sequence analysis AS, CVS, EDTA blood 2-3 ml 40
3300600 Mowat-Wilson syndrome ZEB2 - Exon 10, ZEB2 - Exon 2, ZEB2 - Exon 3, ZEB2 - Exon 4, ZEB2 - Exon 5, ZEB2 - Exon 6, ZEB2 - Exon 7, ZEB2 - Exon 8, ZEB2 - Exon 9 Sequence analysis AS, CVS, EDTA blood 2-3 ml 40

"The results suggest a helical structure which must be very closely packed containing probably 2, 3 or 4 coaxial nucleic acid chains per helical unit and having the phosphate groups near the outside."

Rosalind Elsie Franklin