Leber Congenital Amaurosis (LCA)
- CEP290 (centrosomal protein 290kDa)
- GUCY2D (guanylate cyclase 2D)
- CRB1 (crumbs homolog 1)
- AIPL1 (aryl hydrocarbon receptor interacting protein-like 1)
- RPE65 (retinal pigment epithelium-specific protein 65kDa)
- RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein 1)
- CRX (cone-rod homeobox)
- IMPDH1 (inosine 5'-monophosphate dehydrogenase 1)
Leber Congenital Amaurosis LCA) is a group of congenital inherited diseases of the retina that leads to severe early infantile blindness before the age of 1 year. Clinical findings include severe and early vision loss, sensory nystagmus, amaurotic pupils, and the electroretinogram (ERG) shows severely reduced scotopic and photopic responses. LCA patients often have high refractive errors as well as photoaversion (photophobia) and night blindness. Other ocular findings may include cataract and keratoconus, which is a degenerative non-inflammatory disorder of the cornea. Visual function and acuity in LCA patients varies widely. Patients with LCA may also experience olfactory dysfunction.
In autosomal recessive LCA, completion of LCA testing for tiers 1-6 is expected to detect disease-causing mutations in approximately 59% of patients. In autosomal dominant LCA, analysis of the IMPDH1 and CRX genes is expected to detect disease-causing mutations in approximately 9-10% of patients.
Testing for LCA is offered as sequential tiered testing, which is a cost-effective approach. Alternatively, any of these tests can be ordered separately. Once a mutation has been identified in the proband, mutation-specific testing in relatives and prenatal testing is available.
| Test Code |
I. Sequential LCA tiered testing panel - arLCA (sensitive and cost-effective testing) |
Mutation detection rate in LCA |
Price |
Turn-Around-Time |
| 2980 |
Tier 1 |
CEP290 (IVS26+1655A>G), GUCY2D (2, 12, 13, 15), AIPL1 (2, 4, 6), CRB1 (7, 9), RPE65 (1, 4-5, 8-10) |
~44% |
$2200 |
8 weeks |
| 2981 |
Tier 2 |
CRB1 sequencing exons 1-6, 8, 10-12 |
~4% |
$1740 |
7 weeks |
| 2982 |
Tier 3 |
RPE65 sequencing exons 2-3, 6-7, 11-14 |
~3% |
$1000 |
6-7 weeks |
| 2983 |
Tier 4 |
GUCY2D sequencing exons 3-11, 14, 16-19 |
~2% |
$1740 |
7 weeks |
| 2984 |
Tier 5 |
AIPL1 sequencing exons 1, 3, 5 |
~1% |
$530 |
5 weeks |
| 2985 |
Tier 6 |
RPGRIP1 sequencing exons 1-24 |
5-6% |
$2950 |
8-10 weeks |
| |
II. Sequential LCA tier ed testing panel - adLCA |
|
|
|
| 412 |
Tier 1 |
IMPDH1 entire gene (exons 1-17) |
~8% (simplex LCA) |
$1620 |
8-10 weeks |
| 353 |
Tier 2 |
CRX entire gene (exons 2-4) |
~1-2% |
$770 |
6 weeks |
| |
III. Comprehensive LCA panel (simultaneous and time-saving testing) |
Mutation detection rate in LCA |
Price |
Turn-Around-Time |
| 376 |
|
CEP290 (IVS26+1655A>G mutation only) |
~20-30% |
$350 |
3-4 weeks |
| 377 |
|
GUCY2D entire coding sequence (exons 2-19) |
~6-12% |
$2200 |
7 weeks |
| 378 |
|
CRB1 entire gene (exons 1-12) |
~11% |
$2340 |
7 weeks |
| 345 |
|
RPE65 entire gene (exons 1-14) |
~8-16% |
$1500 |
6-7 weeks |
| 379 |
|
AIPL1 entire gene (exons 1-6) |
~5% |
$890 |
6 weeks |
| 2985 |
|
RPGRIP1 sequencing exons 1-24 |
5-6% |
$2950 |
8-10 weeks |
| 412 |
|
IMPDH1 entire gene (exons 1-17) |
~8% (simplex LCA) |
$1620 |
8-10 weeks |
| 353 |
|
CRX entire gene (exons 2-4) |
~1-2% |
$770 |
6 weeks |
LCA, Leber congenital amaurosis, CEP290, CRB1, RPE65, RPGRIP1, GUCY2D, AIPL1, IMPDH1, CRX, retinal dystrophy, night blindness, vision loss, ERG, photophobia, electroretinogram, achromatopsia, Coats-like exudative vasculopathy, rod-cone dystrophy, retinal detachment
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