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Disease Name: Neuronal ceroid lipofuscinosis

Genes Covered:

AARS, ACTB, ACY1, ADGRV1, ADRA2B, ADSL, AFG3L2, AGTR2, AKT3, ALDH7A1, ALG13, AMT, AP1S2, AP3B2, ARFGEF2, ARHGEF9, ASAH1, ASNS, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATRX, BOLA3, BRAT1, BRWD3, CACNA1A, CACNA1D, CACNA1G, CACNA1H, CACNA2D1, CACNB4, CASK, CASR, CBL, CDKL5, CHD2, CHRNA7, CHRNB2, CLCN2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, COL4A1, COL6A2, COQ4, CPA6, CPT2, CRH, CSTB, CTSD, D2HGDH, DCX, DEAF1, DIAPH1, DNAJC5, DNM1, DNM1L, DOLK, DYNC1H1, DYRK1A, EFHC1, EHMT1, EPM2A, ETHE1, EXT2, FARS2, FIG4, FLNA, FOLR1, GABRA1, GABRA6, GABRB3, GABRD, GABRG2, GAMT, GATM, GCK, GCSH, GLDC, GLYCTK, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HACE1, HCN1, HDAC8, HNRNPU, HSD17B10, IDH2, IER3IP1, INS, IQSEC2, ITPA, JRK, KANSL1, KCNA1, KCND2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCTD7, KIAA2022, L2HGDH, LGI1, LIAS, LMNB2, MAGI2, MANBA, MAPK10, MBD5, MECP2, MED17, MEF2C, MFF, MFSD8, MOCS1, MTHFR, NEDD4L, NEU1, NHLRC1, NIPBL, NR2F1, NRXN1, PCDH19, PHF6, PHGDH, PIGA, PIGN, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPP1R3C, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSEN1, PTEN, RAD21, RANBP2, RBFOX1, RELN, ROGDI, SACS, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SERPINI1, SEZ6, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SMC3, SMS, SNIP1, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STRADA, STXBP1, SYNGAP1, TBC1D24, TBCE, TBL1XR1, TCF4, TK2, TPP1, TSC1, TSC2, TWNK, UBE2A, UBE3A, USP9X, WDR45, WDR62, WWOX, ZEB2
Test Details Pricing

Panel: Strand Neurodevelopmental Disorders Test

Disorder Category: Epilepsy

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

Special Remarks: Few critical genes associated with epilepsy including KCNT1 and DEPDC5 are not covered in this test.

On request