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Disease Name: PCWH syndrome

Genes Covered:

AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, CTC1, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC8, FA2H, FAM126A, FOLR1, FOXRED1, GALC, GFAP, HEPACAM, HSD17B4, HSPD1, HTRA1, IFIH1, LAMB1, LMNB1, MLC1, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NOTCH3, NUBPL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SLC16A2, SOX10, SUMF1, SURF1, TREM2, TREX1, TYMP, TYROBP
Test Details Pricing

Panel: Strand Neurocognitive Disorders Test

Disorder Category: Leukodystrophy

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

On request