Macrocephaly, NGS

Brain Malformation Panel

21 days

Next Generation Sequencing

Genelist (205): ABCC9, ADK, AKT1, AKT2, AKT3, ANKH, APC2, ARSB, ASPA, ASXL2, B4GALT1, B4GALT7, BLTP1, BRAF, BRSK2, BRWD3, BUB1B, CCND2, CCNK, CDKN1C, CEP120, CEP55, CHD3, CHD4, CHD8, COL2A1, COL4A2, CUL4B, D2HGDH, DHCR24, DICER1, DIS3L2, DNMT3A, DPH1, DVL1, EED, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERF, ETFA, ETFB, ETFDH, EVC, EVC2, EXT2, EZH2, FBLN5, FBN1, FGFR1, FGFR3, FH, FIBP, FMR1, FOXP1, FOXRED1, FTO, GATAD2B, GCDH, GFAP, GJA1, GLI3, GNAQ, GNAS, GPC3, GPC4, GPSM2, GPX4, GRIA3, GUSB, H1-4, H19, HECW2, HEPACAM, HERC1, HEXB, HRAS, HSD17B4, HUWE1, HYLS1, IDS, IDUA, IGBP1, INPP5E, CRPPA, JAM3, KCNH1, KDM1A, KDM5C, KIF7, KMT2E, KPTN, KRAS, L1CAM, LAMB1, LBR, MAN2B1, MECP2, MED12, MGAT2, MITF, mLC1, MOCS1, MOCS2, MPDZ, MSX2, MTM1, MTOR, MYH8, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NF1, NFIA, NFIB, NFIX, NONO, NPR2, NRAS, NSD1, NUBPL, ODC1, OFD1, OPHN1, PDGFRB, PDSS1, PEX1, PHF21A, PHF6, PIAS4, PIGA, PIGM, PIK3CA, PIK3R2, PLG, PPP1CB, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RAB3GAP2, RASA1, RIN2, RIT1, RNF113A, RNF125, RNF135, ROR2, SCARF2, SEC23B, SERPINH1, SETD2, SETD2, SHANK3, SHOC2, SLC25A1, SMG9, SMO, SNX14, SOS1, SOST, SPART, SPRED1, STRADA, SUFU, SUZ12, SYN1, SZT2, TBC1D7, TBCD, TBX15, TCF12, TCF20, TGFB3, THRA, TMEM216, TMEM94, TRIO, TRIP12, TSC1, TSC2, TWIST1, UPF3B, WASHC5, WDR73, WNT5A, ZBTB20

Accredited NRL Laboratory

Once a week

Identify genetic variants associated with macrocephaly; differential diagnosis and counseling.

Peripheral Blood

5-7 mL whole blood OR DNA ≥ 100 µL

Lavender-top (EDTA) tube

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.