Non-Invasive Prenatal Testing (NIPT):
Intrauterine Fetal Death and Products of Conception
General Testing
- 22q deletion/ Duplication
- Ambiguous genitalia/ sex determination
- Amenorrhea (primary/ secondary)
- Aneuploidy (Trisomy 13, 18, 21 and X/Y chromosomes), or mosaicism
- Aneuploidy other than 13, 18, 21, X/Y
- Angelman Syndrome
- Autism/autistic spectrum disorders
- Azoospermia/ oligospermia
- Becker/Duchenne Muscular Dystrophy
- Beckwith-Wiedemann Syndrome
- Charcot Marie Tooth 1A
- Chromosomal disorders
- Cystic Fibrosis
- Developmental delay
- DNA banking for future testing
- Dysmorphism
- Family history of known chromosome rearrangement
- Follow-up to abnormal Microarray result
- Follow-up to abnormal RAD result
- FMR1 Related Tests
- Fragile X Syndrome
- Fragile X Tremor-Associated Syndrome
- Friedreich Ataxia
- Hereditary Neuropathy with Pressure Palsies
- Hereditary Pancreatitis (recurrent mutations)
- Huntington Disease (confirmation only)
- Hypotonia Cascade (PWS, SMA, DM1)
- Intellectual disability
- Infertility
- IVF/ICSI Candidate
- Klinefelter Syndrome
- Male Infertility (CBAVD/ Y microdeletion)
- Maternal Cell contamination
- MCAD (common mutation)
- Miscarriages (≥3 )
- Multiple congenital anomalies
- Myotonic Dystrophy (Type 1/ Type 2)
- Non Syndromic Deafness (GJB2/6 Screen)
- Other microdeletion/microduplication syndrome
- Other molecular testing (including referred out testing)
- Permanent storage of live fibroblast cells
- Premature ovarian failure
- Prader Willi Syndrome
- Premature Ovarian Failure
- Rapid Aneuploidy Detection (RAD) Postnatal
- Referred-out biochemical or other testing requiring live fibroblasts
- RETT (MECP2 screen)
- Russell Silver Syndrome
- SMA (SMN dosage)
- Spinal and Bulbular Muscular Atrophy
- Turner Syndrome
- Twin studies
- Williams Syndrome
- XLI (steroid sulfatase deficiency)