Next Generation Sequencing | Deletion / Duplication | NGS & Del Dup Comprehensive |
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Price: $1300
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Price: $1250
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Price: $2350
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CPT: 81408
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CPT: 81407
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CPT: 81408
81407
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Hereditary Spherocytosis can be autosomal dominant as well as autosomal recessive with several of the genes having both heterozygous and homozygous disease-causing variants. De novo mutations are six times more common than recessive mutations. For those families with clearly autosomal dominant inheritance, the Hereditary Spherocytosis, Autosomal Dominant NGS panel will analyze ANK1, SLC4A1 and SPTB. We also offer targeted testing of the SLC4A1 gene for the homozygous variant found in the Old Order Amish population.
Type E
4 weeks or less