Rickets, Hypophosphatemic, Autosomal Recessive

Autosomal recessive hypophosphatemic rickets is characterized by hypophosphatemia and osteomalacia. Resolution of rickets has been observed after treatment with phosphate and vitamin D substitution. Affected individuals can exhibit bowing of the lower limbs, poor dental development, extraskeletal ossification and elevated serum FGF23 levels. Typically, individuals have normal stature. As an autosomal recessive trait, this disorder affects both males and females. ARHR is phenotypically similar to the more common X-linked form of hypophosphatemic rickets due to loss-of-function mutation in the PHEX gene

Tests Available

Forms and Documents

Test Details

CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, PHEX, SLC34A3, VDR
  • Confirmation of the clinical diagnosis
  • Differentiation between X-linked and dominant forms of the disease
  • Determination of appropriate therapeutic approach
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T994
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81406x1, 81479x1
No
Yes
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References

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