|
Disease |
Gene Name, Synonyms |
Mutations |
OMIM |
Regions Sequenced |
Cost |
|
Acute Intermittent Porphyria, (AIP) |
Hydroxymethylbilane Synthase, HMBS; Porphobilinogen Deaminase; PBGD |
Many |
176000 |
Entire gene, exons and flanking introns |
$325 |
|
Alpha-1-Antitrypsin (AAT) Deficiency |
Alpha 1 antitrypsin, AAT |
E366K (Z); E288V (S) |
107400 |
Mutation hotspots E366 and E288 |
$155 |
|
PKU, Phenylalanine Hydroxlyase Deficiency; Phenylketonuria |
Phenylalanine Hydroxylase, PAH |
Many |
261600 |
Entire gene, exons and flanking introns |
$295 |
All samples are sequenced bi-directionally and in duplicate, providing 4X coverage. The results are confidential and sent directly to the customer. If there is a need to discuss the medical implications of the gene sequence we will provide assistance in contacting a professional genetic counselor
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