Greig Cephalopolysyndactyly Syndrome

Grieg cephalopolysyndactyly syndrome (GCPS) is typically characterized by macrocephaly (>97th percentile), prominent forehead, hypertelorism, pre- or postaxial polydactyly (typically preaxial polydactyly of feet and postaxial polydactyly of hands), and syndactyly. Developmental delay, mental retardation, and seizures have been reported in a minority of cases (<10%); severely affected individuals are more likely to have a contiguous gene deletion syndrome that includes the GLI3 gene (Johnston et al., 2003). A “presumptive diagnosis” of GCPS can be made in a proband with preaxial polydactyly, syndactyly of toes 1-3 or fingers 3-4, hypertelorism, and macrocephaly. A firm diagnosis of GCPS can be made when a first degree relative has a diagnosis of GCPS or in an individual with GCPS phenotype and a mutation in the GLI3 gene (Biesecker et al., 2009).

Tests Available

Forms and Documents

Test Details

GLI3
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing
  • Exon Array CGH

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
* For price inquiries please email zebras@genedx.com

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

GLI3
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing
  • Exon Array CGH

Ordering

4712
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
* For price inquiries please email zebras@genedx.com

References

  1. Elson et al., (2002) J Med Genet 39:804-806
  2. Furniss et al., (2009) J Med Genet 46:730-735.
  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

GLI3
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

4711
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
* For price inquiries please email zebras@genedx.com

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