Pallister Hall syndrome (PHS)

The hallmark features of PHS include hypothalamic hamartoma, central polydactyly, postaxial polydactyly type A or B, bifid epiglottis or laryngeal cleft, imperforate anus, renal malformations, genitourinary abnormalities, pulmonary segmentation, and short limbs. A diagnosis can be made in a proband with central polydactyly and hypothalamic hamartoma or when a first degree relative of a proband has hypothalamic hamartoma or central or postaxial polydactyly (Biesecker, 2010).

Tests Available

Forms and Documents

Test Details

GLI3
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

472
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 225 Benign neoplasm of brain and other parts of nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1)
  • 376.41 Hypertelorism of orbit
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 748.3 Other anomalies of larynx, trachea, and bronchus, Absence or agenesis of: bronchus larynx trachea, Anomaly (of): cricoid cartilage, epiglottis thyroid cartilage, tracheal cartilage; Atresia (of): epiglottis, glottis, larynx trachea Cleft thyroid, cartilage, congenital Congenital: dilation, trachea stenosis: larynx trachea tracheocele Diverticulum: bronchus trachea Fissure of epiglottis Laryngocele Posterior cleft of cricoid cartilage (congenital) Rudimentary tracheal bronchus Stridor, laryngeal, congenital
  • 755 Other congenital anomalies of limbs Excludes: those deformities classifiable to 754.0-754.8
  • 756 Other congenital musculoskeletal anomalies Excludes: congenital myotonic chondrodystrophy (359.23) those deformities classifiable to 754.0-754.8
  • 755.1 Syndactyly Symphalangy Webbing of digits
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References

  1. Furniss et al., (2009) J Med Genet 46:730-735.
  2. Elson et al., (2002) J Med Genet 39:804-806
  3. Debeer et al., (2003) Am J Med Genet Part A 120A:49-58
  4. Biesecker et al., (2008) Orphanet J Rare Dis 3:10
  5. Biesecker (2006) J Med Genet 43:465-469
  6. Balk and Biesecker, (2008) Am J Med Genet Part A 146A:548-557

Forms and Documents

Test Details

AKT3, BRWD3, CCND2, CHD8, CUL4B, DNMT3A, EZH2, GLI3, GPC3, HEPACAM, HERC1, MED12, MTOR, NFIA, NFIX, NSD1, OFD1, PHF6, PIK3CA, PIK3R2, PPP2R5D, PTCH1, PTEN, RAB39B, RNF135, SETD2, SNX14, TBC1D7, UPF3B
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

699
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81321x1, 81323x1, 81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com