Walker–Warburg Syndrome

Forms and Documents

Test Details

ACTB, ACTG1, ADGRG1, AHI1, AKT3, AMPD2, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B4GAT1, B9D1, B9D2, C5orf42, CASK, CC2D2A, CCND2, CEP104, CEP120, CEP290, CEP41, CHMP1A, CIT, CSPP1, CUL4B, DCHS1, DCX, DYNC1H1, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KATNB1, KIAA0586, KIF1BP, KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE1, MKS1, NDE1, NEDD4L, NPHP1, NPHP3, OCLN, OFD1, OPHN1, PAFAH1B1, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN15, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of brain malformations
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

691
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2, 81405x2, 81406x2, 81407x1, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASPM, ATP6V0A2, B3GALNT2, B4GAT1, CCND2, CIT, CUL4B, DCHS1, DCX, DYNC1H1, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, ISPD, KATNB1, KIF1BP, KIF2A, KIF5C, LAMB1, LAMC3, LARGE1, NDE1, NEDD4L, OCLN, PAFAH1B1, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SRD5A3, SRPX2, TBC1D20, TMEM5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, WDR62
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of neuronal migration and cortical organization disorders
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

698
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2, 81405x2, 81406x2, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACTA1, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHKB, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EGR2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LAMP2, LARGE, LDB3, LMNA, LMOD3, MEGF10, MICU1, MTM1, MYH2, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5, POMGNT1, POMK, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SLC52A2, SLC52A3, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, UBA1, VCP, VRK1
  • 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

889
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81407x1, 81408x2, 81161x1, 81405x2, 81406x2, 81404x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ANO5, BVES, CAPN3, CAV3, DES, DMD, DNAJB6, DOK7, DYSF, FKRP, FKTN, GAA, GMPPB, LMNA, MYOT, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

890
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x2, 81408x2, 81161x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

B3GALNT2, B4GAT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, LMNA, POMGNT1, POMK, POMT1, POMT2, TMEM5, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

891
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81405x2, 81406x2, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACTA1, BICD2, CCDC78, CFL2, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DYNC1H1, FKRP, FKTN, GBE1, IGHMBP2, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LMNA, LMOD3, MEGF10, MICU1, MTM1, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3, TRIP4, TRPV4, UBA1, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

892
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81405x1, 81406x2, 81407x1, 81408x1, 81479X1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACTB, ACTG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CIT, DCX, FKRP, FKTN, GMPPB, ISPD, KATNB1, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMEM5, TUBA1A, VLDLR, WDR62
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of neuronal migration and cortical organization disorders
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

946
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2, 81405x2, 81406x2, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACTB, ACTG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CIT, DCX, FKRP, FKTN, GMPPB, ISPD, KATNB1, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMEM5, TUBA1A, VLDLR, WDR62
  • Prenatal imaging findings suggestive of lissencephaly
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J793
3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81404x2, 84105x2, 81406x2, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com