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Test Code
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5270
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Test Name
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Leber Congenital Amaurosis And Related Disorders NGS Panel
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CPT Codes
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81404, 81406, 81407, 81479
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Expected Turnaround Time
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Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
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Clinical Utility
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Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
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Specimen and Container Info
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Non-Prenatal Specimens Preferred/Alternate | Specimen Type | Containers | Volume | Preferred Specimen Type | Whole Blood | Lavender Top (EDTA) | 3 mL | Alternate Specimen Type | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. | Alternate Specimen Type | Fibroblasts | T-25 Flasks | 2 confluent T-25 flasks, filled to capacity | Alternate Specimen Type | Saliva (Whole blood is recommended for CNV) | DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children | Follow kit instructions (www.dnagenotek.com) |
Prenatal Specimens Either specimen type below is acceptable. Specimen Type | Containers | Volume | Cultured cells | T-25 Flasks | 2 confluent T-25 flasks derived from amnio or CVS samples. | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. |
NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico. |
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Transport Instructions
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- Transport at room temperature within 24 hours.
- If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
- Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.
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Stability Requirements
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Room Temperature
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Refrigerated
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Causes for Rejection
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- Improperly labeled specimen (minimum of two patient identifiers)
- Inappropriate specimen type
- Incomplete or incorrect test request form
- Insufficient volume
- Specimen has leaked in transit
- Specimen without a test order
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Methodology
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Next Generation Sequencing and Copy Number Variation Analysis
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Performing Location
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Genomics - Snowdrift
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Alternate Names
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LCA
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Description
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Leber congenital amaurosis (LCA), the second most common inherited retinal dystrophy, is primarily characterized by poor visual acuity. Other findings include nystagmus, amaurotic pupil, high hyperopia, keratoconus, progressive pigmentary changes in the retina, and extinguished electroretinogram. Franceschetti's oculo-digital sign is pathognomonic. It is a behavior characterized by hard finger poking, pressing, and rubbing the eyes. LCA is genetically heterogeneous and the age of onset is typically prior to one year of age. The Leber congenital amaurosis and related disorders NGS panel consists thirty-two genes: AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH5, RDH12, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7 and TULP1. Gene | Disorder | MIM | Inheritance | AIPL1 | Leber congenital amaurosis 4 (LCA4) Cone-rod dystrophy Retinitis pigmentosa, juvenile | 604393 604393 604393 | AR AR AR | ALMS1 | Alstrom syndrome (ALMS) | 203800 | AR | CABP4 | Cone-rod synaptic disorder, congenital nonprogressive (CRSD) | 610427 | AR | CEP290 | Leber congenital amaurosis 10 (LCA10) Bardet-Biedl syndrome 14 (BBS14) Joubert syndrome 5 (JBTS5) Meckel syndrome 4 (MKS4) Senior-Loken syndrome 6 (SLSN6) | 611755 615991 610188 611134 610189 | AR AR AR AR AR | CLUAP1 | Leber congenital amaurosis, CLAUP1 related | - | AR | CNGA3 | Leber congenital amaurosis, CNGA3 related Achromatopsia 2 (ACHM2) | - 216900 | AR AR | CRB1 | Leber congenital amaurosis 8 (LCA8) Pigmented paravenous chorioretinal atrophy (PPCRA) Retinitis pigmentosa 12, autosomal recessive (RP12) | 613835 172870 600105 | AR AD AR | CRX | Leber congenital amaurosis 7 (LCA7) Cone-rod retinal dystrophy 2 (CORD2) | 613829 120970 | AR AD | DTHD1 | Leber congenital amaurosis with myopathy | - | AR | GDF6 | Leber congenital amaurosis 17 (LCA17) Klippel-Feil syndrome 1, autosomal dominant (KFS1) Microphthalmia, isolated 4 (MCOP4) Microphthalmia, isolated, with coloboma 6 (MCOPCB6) | 615360 118100 613094 613703 | AR AD AD AR | GUCY2D | Leber congenital amaurosis 1 (LCA1) Cone-rod dystrophy 6 (CORD6) | 204000 601777 | AR AD | IFT140 | Leber congenital amaurosis, IFT140 related Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) | - 266920 | AR AR | IMPDH1 | Leber congenital amaurosis 11 (LCA11) Retinitis pigmentosa 10 (RP10) | 613837 180105 | AD AD | INPP5E | Leber congenital amaurosis, INPP5E related Joubert syndrome 1 (JBTS1) Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) | - 213300 610156 | AR AR AR | IQCB1 | Senior-Loken syndrome 5 (SLSN5) | 609254 | AR | KCNJ13 | Leber congenital amaurosis 16 (LCA16) Snowflake vitreoretinal degeneration (SVD) | 614186 193230 | AR AD | LCA5 | Leber congenital amaurosis 5 (LCA5) | 604537 | AR | LRAT | Leber congenital amaurosis 14 (LCA14) Retinal dystrophy, early-onset severe Retinitis pigmentosa, juvenile, LRAT related | 613341 613341 613341 | AR AR AR | MERTK | Leber congenital amaurosis, MERTK related Retinitis pigmentosa 38 (RP38) | - 613862 | AR AR | MYO7A | Leber congenital amaurosis, MYO7A related Usher syndrome, type 1B (USH1) Deafness, autosomal recessive 2 (DFNB2) Deafness, autosomal dominant 11 (DFNA11) | - 276900 600060 610317 | AR AR AR AD | NMNAT1 | Leber congenital amaurosis 9 (LCA9) | 608553 | AR | OTX2 | Leber congenital amaurosis, OTX2 related Microphthalmia, syndromic 5 (MCOPS5) Pituitary hormone deficiency, combined, 6 (CPHD6) | - 610125 613986 | AD AD AD | PRPH2 | Leber congenital amaurosis 18 (LCA18) Choriodal dystrophy, central areolar 2 (CACD2) Macular dystrophy, patterned, 1 (MDPT1) Macular dystrophy, vitelliform, 3 (VMD3) Retinitis pigmentosa 7, digenic (RP7) Retinitis punctata albescens | 608133 613105 169150 608161 608133 136880 | AD / AR AD AD AD AD / AR AD | RD3 | Leber congenital amaurosis 12 (LCA12) | 610612 | AR | RDH5 | Leber congenital amaurosis, RDH5 related Fundus albipunctatus | - 136880 | AR AD / AR | RDH12 | Leber congenital amaurosis 13 (LCA13) | 612712 | AR | ROM1 | Retinitis pigmentosa 7, and digenic (RP7) | 608133 | AD / AR | RPE65 | Leber congenital amaurosis 2 (LCA2) Retinitis pigmentosa 20 (RP20) | 204100 613794 | AR AR | RPGRIP1 | Leber congenital amaurosis 6 (LCA6) Cone-rod dystrophy 13 (CORD13) | 613826 608194 | AR AR | SNRNP200 | Leber congenital amaurosis, SNRNP200 related Retinitis pigmentosa 33 (RP33) | - 610359 | AR AD | SPATA7 | Leber congenital amaurosis 3 (LCA3) Retinitis pigmentosa, juvenile, autosomal recessive | 604232 604232 | AR AR | TULP1 | Leber congenital amaurosis 15 (LCA15) Retinitis pigmentosa 14 (RP14) | 613843 600132 | AR AR |
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Testing Schedule
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Monday-Friday
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Genes
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AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH12, RDH5, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
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Disease Group
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Ophthalmology
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