Tuberous Sclerosis Complex (TSC)

Tuberous sclerosis complex (TSC) is characterized by abnormalities of the skin, brain, kidney, heart, and lungs. Skin findings are present in nearly all patients with TSC, and major criteria in skin include facial angiofibromas, forehead plaque, nontraumatic ungual or periungual fibromas, three or more hypomelanotic macules, or a shagreen patch. Major features involving other body systems include multiple retinal nodular hamartomas, cortical tuber, subependymal nodule, subependymal giant cell astrocytoma, cardiac rhabdomyoma, lymphangiomyomatosis, and renal angiomyolipoma. Minor features include randomly distributed pits in dental enamel, hamartomatous rectal polyps, bone cysts, cerebral white matter radial migration lines, gingival fibromas, non-renal hamartoma, retinal achromic patch, confetti skin lesions, and multiple renal cysts. Individuals who meet diagnostic criteria for definite TSC have two major features or one major and two minor features, probable TSC requires one major plus one minor feature, and possible TSC is one major or two or more minor features (Roach and Sparagano 2004).

Tests Available

Forms and Documents

Test Details

TSC1, TSC2
  • Confirmation of a clinical diagnosis
  • Carrier testing for individuals with a known familial TSC1 or TSC2 mutation
  • Prenatal diagnosis in at-risk pregnancies

Ordering

730
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1, 81406x2, 81407x1
Yes
Yes
  • 780.39 Other convulsions Convulsive disorder NOS Fits NOS Recurrent convulsions NOS Seizure NOS Seizures NOS
  • 759.5 Tuberous sclerosis Bourneville's disease Epiloia
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Northrup H, Koenig MK, Au KS. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2015 Sep 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet].
  2. Roach and Sparagano (2004) J Child Neurol 19:643-649.
  3. Rose et al., (1999) Am J Hum Genet 64:986-992. Qin et al., (2010) Hum Genet 127:573-582.
  4. Mayer et al., (2013) Eur J Hum Genet e1–e4; doi:10.1038/ejhg.2013.129.
  5. Kozlowski et al., (2007) Hum Genet 121:389-400.
  6. Jones et al., (1999) Am J Hum Genet 64:1305-1315.
  7. Dabora et al., (2001) Am J Hum Genet 68:64-80.
  8. Sancak et al., (2005) Eur J Hum Genet 13:731-741.
  9. Au et al., (2007) Genet Med 9:88-100.

Forms and Documents

Test Details

TSC1, TSC2
  • Full gene sequencing and exon-level deletion/duplication for fetuses with prenatal ultrasound findings suggestive of TSC.
  • Variant-specific testing for fetuses with a family history of a known TSC1 or TSC2 pathogenic variant.

Ordering

934
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

81405x1, 81406x2, 81407x1, 81265x1
Yes
No
* For price inquiries please email zebras@genedx.com

References

  1. Northrup H, Koenig MK, Au KS. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2011 Nov 23]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.n
  2. Roach and Sparagano (2004) J Child Neurol 19:643-649. Gusman et al., (2012) Case Reports in Pediatrics 2012: 925646.
  3. Sciacca et al., (2014) BMC Cardiovasc Disord 14:66. Tsai et al., (2014) Cereb Cortex 24(2):315-327.
  4. Prabowo et al., (2013) Brain Pathology 23(1):45-59. Saada et al., (2009) Ultrasound Obstet Gynecol 34(4):489.
  5. Rose et al., (1999) Am J Hum Genet 64:986-992.
  6. Qin et al., (2010) Hum Genet 127:573-582.
  7. Mayer et al., (2013) Eur J Hum Genet e1–e4; doi:10.1038/ejhg.2013.129.
  8. Kozlowski et al., (2007) Hum Genet 121:389-400.
  9. Jones et al., (1999) Am J Hum Genet 64:1305-1315.
  10. Dabora et al., (2001) Am J Hum Genet 68:64-80.
  11. Sancak et al., (2005) Eur J Hum Genet 13:731-741.
  12. Au et al., (2007) Genet Med 9:88-100.
  13. Lee et al., (2013) Ultrasound Obsetet Gynecol 41(3) :306-311.

Forms and Documents

Test Details

AHI1, ALG8, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GANAB, GLIS2, GLIS3, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PKD1, PKD2, PKHD1, PMM2, PRKCSH, RMND1, RPGRIP1L, SEC61A1, SEC63, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35
  • Molecular confirmation of a clinical diagnosis;
  • Development of appropriate evaluation and management plan;
  • Evaluation of family members as possible donors for kidney/liver transplantation;
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member;
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies;
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Sequencing of the PKD1 gene is challenging due to high homology with six known pseudogenes (exons 1-33).
Our NGS assay is specifically designed to provide superior mapping quality and uniform coverage across the coding region of PKD1, enabling robust detection of variants including indels. For mapping quality of >20, 99.7% of the targeted nucleotides have a mean coverage of 264 reads; even at a mapping quality of >40, mean coverage is 254x.
PKD1 variants are confirmed by long-range, nested PCR and capillary sequencing.
For Deletion/Duplication analysis, Multiplex Ligaton-Dependent Probe Amplification (MLPA) is performed.

Ordering

TG23
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81406x2; 81407x1; 81408x2
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

AHI1, ALG8, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GLIS2, GLIS3, IFT172, INVS, IQCB1, JAG1, LRP5, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PMM2, RMND1, RPGRIP1L, SEC61A1, SEC63, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35
  • Molecular confirmation of a clinical diagnosis;
  • Development of appropriate evaluation and management plan;
  • Evaluation of family members as possible donors for kidney transplantation;
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member;
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies;
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Ordering

TG25
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81405x1; 81406x2; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

AHI1, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GLIS2, GLIS3, HNF1B, IFT172, INVS, IQCB1, JAG1, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PMM2, RMND1, RPGRIP1L, SEC61A1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35
  • Molecular confirmation of a clinical diagnosis;
  • Development of appropriate evaluation and management plan;
  • Evaluation of family members as possible donors for kidney/liver transplantation;
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member;
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies;
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Ordering

TG24
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81405x2; 81406x1; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com