MASA Syndrome

These related neurological syndromes with X-linked inheritance are allelic disorders due to mutation in the L1CAM gene. Congenital hydrocephalus and resultant macrocephaly due to stenosis of the aqueduct of Sylvius may occur as an isolated finding, but is frequently associated with other features, including hypoplastic or flexed, adducted thumbs. Patients exhibit varying degrees of mentally retardation and spastic paraplegia, particularly of the lower extremities. MASA syndrome includes Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. In addition, CRASH syndrome includes Corpus callosum agenesis/hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus. There can be significant phenotypic variability within families, with some males severely affected and diagnosed prenatally while others may have no macrocephaly and long survival. Approximately 5% of females harboring a L1CAM mutation exhibit clinical disease symptoms.

Tests Available

Forms and Documents

Test Info Sheet Test Requisition

Test Details

L1CAM
  • Patients with hydrocephalus and at least one L1CAM–associated finding
  • Carrier testing in female relatives
  • Risk assessment
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

552
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81407x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Vos, J. (2010) J Med Genet. 47(3):169-75
  2. Jackson, SR. (2009) Pediatr Surg Int. 25(9):823-5
  3. Jouet, M. (1994) Nature Genet. 7: 402-407, 1994
  4. Finckh, U. (2000) Am. J. Med. Genet. 92: 40-46

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

L1CAM
  • Full sequencing for fetuses with prenatal ultrasound findings suggestive of X-linked hydrocephalus/L1CAMrelated disorder
  • Mutation-specific testing for fetuses with a family history of a known L1CAM mutation
  • Capillary Sequencing
  • Exon Array Dx

Ordering

2553E
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|6 Ug DNA Concentration

Billing

81407x1, 81265x1, 81479x1
Yes
Yes
  • 655.23 Hereditary disease in family possibly affecting fetus
  • 655.83 Other known or suspected fetal abnormality, not elsewhere classified
* For price inquiries please email zebras@genedx.com

References

  1. Jouet, M. (1994) Nature Genet. 7: 402-407, 1994
  2. Finckh, U. (2000) Am. J. Med. Genet. 92: 40-46
  3. Jackson, SR. (2009) Pediatr Surg Int. 25(9):823-5
  4. Vos, J. (2010) J Med Genet. 47(3):169-75

Forms and Documents

Specimen Requirements Test Info Sheet Test Requisition

Test Details

L1CAM
  • Full sequencing for fetuses with prenatal ultrasound findings suggestive of X-linked hydrocephalus/L1CAMrelated disorder.
  • Mutation-specific testing for fetuses with a family history of a known L1CAM mutation
  • Capillary Sequencing

Ordering

2553
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|4 Ug DNA Concentration

Billing

81407x1, 81265x1
Yes
Yes
  • 655.23 Hereditary disease in family possibly affecting fetus
  • 655.83 Other known or suspected fetal abnormality, not elsewhere classified
* For price inquiries please email zebras@genedx.com

References

  1. Jouet, M. (1994) Nature Genet. 7: 402-407, 1994
  2. Finckh, U. (2000) Am. J. Med. Genet. 92: 40-46
  3. Jackson, SR. (2009) Pediatr Surg Int. 25(9):823-5
  4. Vos, J. (2010) J Med Genet. 47(3):169-75