The Ashkenazi Panel employs next generation DNA sequencing to detect variations in 18 genes. This expanded panel detects the common variants in Bloom Syndrome (BLM), Canavan Disease (ASPA), Cystic Fibrosis (CFTR), Familial Dysautonomia (IKBKAP), Fanconi Anemia Group C (FANCC), Gaucher Disease (GBA), Glycogen Storage Disease 1A (G6PC), Joubert Syndrome (TMEM216), Maple Syrup Urine Disease (BCKDHA, BCKDHB), Mucolipidosis Type IV (MCOLN1), Nemaline Myopathy (NEB), Niemann-Pick Disease Type A (SMPD1), Tay-Sachs Disease (HEXA), Usher Syndrome (PCDH15), and Usher Syndrome Type III (CLRN1) and ABCC8 Related Hyperinsulinism (ABCC8). DNA is isolated from the sample; all exons and flanking regions of the genes listed are amplified enzymatically and subjected to Next-Generation DNA Sequencing on an Ion Torrent Instrument.
Disease | Gene | Estimated Carrier Frequency |
ABCC8 Related Hyperinsulinism | ABCC8 | 1/52 |
Bloom Syndrome | BLM | 1/107 |
Canavan Disease | ASPA | 1/41 |
Cystic Fibrosis | CFTR | 1/25 |
Familial Dysautonomia | IKBKAP | 1/32 |
Fanconi Anemia Group C | FANCC | 1/89 |
Gaucher Disease | GBA | 1/15 |
Glycogen Storage Disease 1A | G6PC | 1/71 |
Joubert Syndrome | TMEM216 | 1/92 |
Maple Syrup Urine Disease | BCKDHA, BCKDHB | 1/80 |
Maple Syrup Urine Disease Type III | DLD | 1/110 |
Mucolipidosis Type IV | MCOLN1 | 1/96 |
Nemaline Myopathy | NEB | 1/168 |
Niemann-Pick Disease Type A | SMPD1 | 1/90 |
Tay-Sachs Disease | HEXA | 1/28 |
Usher Syndrome type 1F | PCDH15 | 1/147 |
Usher Syndrome type III | USH3A | 1/120 |
This analysis does not rule out the presence of rare disease-causing mutations in other regions of the genes listed. Large duplication/deletions not specifically tested for in this assay may not be detected. Detection rates and residual risk estimations are based on mutation frequencies in the Ashkenazi Jewish population. |
SAMPLE REQUIREMENTS: |
Blood: 3-5 ml purple top (EDTA) vacutainer of whole blood inverted several times to mix. Forward within 48 hours at room temperature. |
Amniotic Fluid: 10-15 ml amniotic fluid from 14th-17th week of gestation or one confluent T25 flask of cultured cells. Send specimen refrigerated, but not frozen (do not ship on dry ice). Please use an overnight courier service. |
Test Method: Next Generation Sequencing |
Turn around time: 7-10 days |
Report: will include assay results, background information, and a calculation of residual carrier risk if results are negative |