Fabry Disease

Males with Fabry disease have attacks of abdominal pain and arthralgia. Vascular skin lesions (angiokeratoma) are frequent, and vascular lesions may also occur elsewhere, including ocular fundi and kidney. Whorl-like corneal dystrophy is not uncommon. Neurological symptoms include autonomic dysfunction, orthostatic hypotension, and acroparasthesia. Angina, exercise intolerance and EKG changes occur, often with normal coronary arteries, heart size and hemodynamics, although left ventricular wall and septal hypertrophy are not infrequent. Respiratory complications include chronic airflow obstruction. Ultimately, renal failure may cause death. Females who harbor a mutation in the GLA gene may have manifestations of the disorder, including renal, cardiac and cerebrovascular involvement, angiokeratomas and corneal epitheliopathy. Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme alpha-galactosidase A.

Tests Available

Forms and Documents

Test Details

GLA
  • Confirmation of a clinical diagnosis
  • Mutation detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2321
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
Yes
Yes
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. MacDermot KD et al., J Med Genet 38:769-775 (2001)
  2. Barranger, JA & O’Rourke, E 10(1):9-15 (2002)
  3. Bennett RL et al., J of Genetic Counseling, 11(2):121-146 (2002)
  4. Schafer et al., Hum Mutat 25(4):412 (2005)
  5. Gupta et al., Medicine 84(5):261-268 (2005)

Forms and Documents

Test Details

AARS, AIFM1, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SLC52A2, SLC52A3, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, WNK1, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

737
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81260X1, 81324X1, 81325X1, 81403x1, 81404x4, 81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACTC1, ACTN2, ALPK3, CAV3, CSRP3, FHL1, FLNC, GAA, GLA, JPH2, LAMP2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, PLN, PRKAG2, RAF1, RIT1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J553
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J553C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with a hereditary cardiovascular condition

Customizable Cardiology Panel

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J779
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

Varies by gene
No
Yes
* For price inquiries please email zebras@genedx.com