This test detects a distinct subset of recurrent microdeletions and 2 microduplications (mentioned in the table below) in genomic DNA isolated from human peripheral whole blood, (cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, cultured chorionic villi free from maternal contamination. intended to confirm a potential cause for and clinical diagnosis of developmental delay, intellectual disability and/or congenital anomalies.

5-7 business days

EDTA blood, amniotic fluid, CVS

ARSA, CDC45, CLDN5, CLTCL1, CREBBP, CYP1A1, DCDC1, DGCR8, DLG1, DMD, DRC3, EIF3H, ELN, EXT1, FANCC, FSHB, GABRD, GATA3, GNB1, GNB1L, GP1BB, IRX4, JAG1, KANSL1, LETM1, LLGL1, MAPT, MBD5, MECP2, MED15, METTL16, NF1, NSD1, PAFAH1B1, PAX6, PEX13, PPIL2, PTCH1, RABL2B, RAI1, REL, RTDR1, SATB2, SEMA5A, SEMA7A, SHANK3, SNAP29, SNRPN, TERT, TNFRSF4, TOM1L2, TRPS1, TWIST1, UBE3A, WHSC1, ZNF74

Mutations in BRCA1 and BRCA2 can increase the risk of developing cancer. Mutations in these two genes are responsible for 5 to 10 % of all breast cancers in women. detection of deletions or duplications in the BRCA2 gene in genomic 2 DNA isolated from human peripheral whole blood specimens.

5-7 business days

EDTA Blood

BRCA1, BRCA2

Y-chromosome microdeletions are the second most common genetic cause of male infertility. Most deletions that lead to azoospermia or severe oligozoospermia occur in the AZF (Azoospermia Factor) regions on the Y chromosome, which contain genes essential for spermatogenesis. As a result, genetic testing for AZF deletions has become a routine part of the diagnostic evaluation for men with azoospermia or severe oligozoospermia. This test detects deletions or duplications in the AZFa, AZFb, and AZFc regions of the Y chromosome, which are associated with spermatogenic failure in infertile men.

5-7 business days

EDTA Blood

Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophies. It is the most common hereditary neuromuscular disease and does not exhibit a predilection for any race or ethnic group. Mutations in the dystrophin gene lead to progressive muscle fiber degeneration and weakness. This test is for detection of deletions or duplications in the DMD gene in genomic DNA isolated from human peripheral whole blood specimens, cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, cultured chorionic villi free from maternal contamination.

5-7 business days

EDTA blood, amniotic fluid, CVS

DMD1, DMD2

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from defective steroidogenesis. The production of cortisol in the zona fasciculata of the adrenal cortex occurs in five major enzyme-mediated steps. CAH results from deficiency in any one of these enzymes.

5-7 business days

EDTA Blood

CYP21A2

deletion/duplication analysis is intended for individuals who have a clinical diagnosis of β-thalassemia and have either one or no pathogenic variants detected by HBB full gene sequencing. This test may also be used for carrier screening in individuals at increased risk of being an HBB carrier but have tested negative by HBB full gene sequencing. If testing is needed for a known familial large deletion or duplication, please submit a copy of the laboratory report documenting the familial variant in the index family member.

5-7 business days

EDTA Blood

HBB

DNA analysis of the α-globin region (HBA1/HBA2, OMIM 141800/141850, 16pter-16p13.3) is performed by targeting 28 different sequences using multiplex ligation-dependent probe amplification (MLPA). This methodology detects genomic deletions and duplications involving this locus, including the seven most common types of α-Thalassemia deletions (α-3.7, α-4.2, SEA, MED, THAI, FIL, and α-(20.5)), as well the Constant Spring point mutation.

5-7 business days

EDTA Blood

HBA

SMN1/SMN2 Deletion/Duplication (MLPA) is a molecular test used to identify copy number variants in the gene associated with Spinal Muscular Atrophy. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

5-7 business days

EDTA Blood

SMN1, SMN2