Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)

Lowe syndrome is a rare X-linked disorder caused by the deficiency of a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase. The disorder is characterized by bilateral congenital cataracts, a form of renal Fanconi syndrome, with proteinuria, albuminuria, aminoaciduria and phosphaturia, and neurologic deficits including developmental delay/mental retardation, seizures and behavioral stereotypies. Additional findings include hypotonia, a characteristic facies, postnatal growth retardation and corneal keloids. Mutations in the OCRL gene also cause a form of Dent disease, known as Dent disease 2 (OMIM 300555). Although the most common cause of Dent disease is mutations in the CLCN5 gene, approximately 16-23% of Dent disease cases are due to mutations in the OCRL gene. Dent disease is a rare X-linked disorder characterized by renal Fanconi syndrome, without the cataracts and neurologic deficits that occur in Lowe syndrome.

Tests Available

Forms and Documents

Test Details

  • Confirmation of clinical or biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies

Ordering

TA73
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

ABCA3, ABHD5, ADAMTSL4, AGK, AKR1E2, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, CHMP4B, COL11A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EBP, EPG5, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, JAM3, LIM2, LONP1, LSS, MAF, MAN2B1, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6, PEX11B, PEX7, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RGS6, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2, WDR87, WFS1, WRN
  • Cataracts that are not age-related
  • Cataracts co-occurring with other symptoms
  • Microopthalmia and glaucoma commonly co-occur. Additional eye findings may suggest a syndrome
  • Sporadic or familial inheritance patterns

Ordering

J958
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81403x1; 81404x1; 81405x2; 81406x1; 81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Deng et al. (2014) Eur J Med Genet 57 (2-3):113-22 (PMID: 24384146)
  2. Patel et al. (2017) Hum. Genet. 136 (2):205-225 (PMID: 27878435)
  3. Ma et al. (2016) Hum. Mutat. 37 (4):371-84 (PMID: 26694549)
  4. Shiels et al. (2015) Prog Mol Biol Transl Sci 134 :203-18 (PMID: 26310156)
  5. Aldahmesh et al. (2012) Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 14 (12):955-62 (PMID: 22935719)