Test Background

Features of this syndrome include high pitched cry, microcephaly, characteristic facial features, impaired growth, and developmental delay. The size of the deletion may vary. There are genotype-phenotype correlations based upon the size and location of the deletion. Among patients with the clinical features of Cri du Chat syndrome, MLPA will detect a deletion in greater than 95% of cases.

Lab Method

MLPA

Vital Information

Test Code:
C0247

Turnaround Time:
2-3 weeks

CPT Code:
81479×1

Billing

Forms and Documents