Next Generation Sequencing | Deletion / Duplication | NGS & Del Dup Comprehensive |
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Price: $1200
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Price: $1250
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Price: $2250
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CPT: 81408
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CPT: 81407
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CPT: 81408
81407
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Most infants with Aicardi-Goutières syndrome (AGS) manifest after the first few weeks of life with a subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth usually resulting in severe intellectual and physical handicap. A subgroup of infants with AGS present at birth with symptoms suggestive of congenital infection; abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia. Homozygous and compound heterozygous variants in RNASEH2A, RNASEH2B, TREX1, RNASEH2C, and SAMHD1 cause AGS. Heterozygous inherited and de novo variants in TREX1, ADAR and IFIH1 lead to AGS.
Type E
4 weeks or less