Medullary Cystic Kidney Disease

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

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