ALG1, ALG9, ASAH1, BRAF, CANT1, CBL, CCBE1, CDAN1, CHRNA1, CHRND, CHRNG, CLCNKA, CLCNKB, COL2A1, CTSA, DHCR7, FAT4, FGFR3, FOXC2, FOXP3, G6PD, GALNS, GATA1, GBA1, GBE1, GLA, GLB1, GNPTAB, GUSB, HADHA, HADHB, HRAS, IDUA, KAT6B, KIAA0586, KIF23, KLF1, KMT2D, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PEX3, PEX5, PEX6, PIEZO1, PIGA, PKLR, PMM2, PTH1R, PTPN11, RAF1, RASA1, RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SHOC2, SLC17A5, SMPD1, SOS1, SOS2, SOX18, SUMF1, UROS, WDR35, AHCY, ALG8, ALPK3, EPHB4, FLT4, FLVCR2, GLI2, HBA1, HBA2, LARS2, MYBBP1A, NEB, PEX11B, PEX2, PEX7, SGPL1, STAC3, TAFAZZIN, TALDO1, TGFB2, TRIP11
Non-Immune Hydrops NGS Panel
Key Information
Lab:
TAT:
8 weeks
Price:
$3,500
CPT Code(s):
81443
Test Code:
DNHP
Prenatal Samples Accepted
Non-Immune Hydrops NGS Panel
Non-Immune Hydrops NGS Panel is 108-gene intended for patients with a clinical suspicion or diagnosis of hydrops with or without other associated clinical findings.
Achondrogenesis, Alpha-thalassemia, Arthrogryposis multiplex congenita, Barth syndrome, Bartter syndrome, Capillary malformation-arteriovenous malformation, Cardio-facio-cutaneous syndrome, Cardiomyopathy, Congenital disorders of glycosylation, Congenital dyserythropoietic anemia, Congenital erythropoietic porphyria, Congenital heart defects, Congenital myopathy, Costello syndrome, Culler-Jones syndrome, Desbuquois dysplasia, Diamond-Blackfan anemia, Erythrocytosis, Fabry disease, Galactosialidosis, Gaucher disease, Genitopatellar syndrome, Glucose-6-phosphate dehydrogenase deficiency, Glycogen storage disease 4, Greenberg skeletal dysplasia, Heinz body anemias, Hemangioma, Hemoglobin H disease, Hennekam lymphangiectasia-lymphedema syndrome, Hereditary lymphedema, Holoprosencephaly, Hurler syndrome (MPS I), Hydrops\, lactic acidosis\, and sideroblastic anemia, Hypermethioninemia, Hypochondrogenesis, Infantile sialic acid storage disease, Kabuki syndrome, Loeys-Dietz syndrome, Lymphatic malformation, Lymphedema-distichiasis syndrome, Mevalonic aciduria, Morquio syndrome A (MPS IVA), Morquio syndrome B (MPS IVB), Mucolipidosis II (I-cell disease), Multiple pterygium syndrome, Multiple sulfatase deficiency, Nemaline myopathy, Niemann-Pick disease, Non-immune hydrops fetalis, Noonan syndrome, Odontochondrodysplasia, Opitz GBBB syndrome, Peroxisome biogenesis disorder (Zellweger syndrome), Perrault syndrome, Polycystic liver disease, Sly syndrome (MPS VII), Proliferative vasculopathy and hydranencephaly-hydrocephaly, Pyruvate kinase deficiency, RENI syndrome, Rhizomelic chondrodysplasia punctata, Short-rib thoracic dysplasia, Sialidosis (Mucolipidosis type 1), Sly syndrome (MPS VII), Smith-Lemli-Opitz syndrome, Tenorio-Castano syndrome, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, Transaldolase deficiency, Trifunctional protein deficiency, X-linked anemia with or without neutropenia and/or platelet abnormalities, X-linked immunodysregulation\, polyendocrinopathy\, and enteropathy
Clinical Information
Non-immune hydrops fetalis can result from numerous etiologies. Inborn errors of metabolism, specifically some lysosomal storage disorders, have been shown to be a cause of some cases of non-immune hydrops. Genes associated with RASopathies, certain skeletal dysplasias, and lymphedema disorders are included on this panel.
Technical Information
This panel is performed by Next Generation Sequencing and covers the coding regions of the listed genes and the flanking intronic sequences. Promoter, 3′ untranslated sequences, and deep intronic sequences are also covered, but only known disease-causing variants in these regions will be reported. Variants identified on the panel are confirmed with Sanger sequencing if they do not meet certain quality thresholds. Large deletions and duplications (CNVs) affecting the genes of the panel can be detected; however, due to defined settings in the analysis software, CNVs smaller than 2-kb may not be identified (for example, some small exonic level copy number changes may not be identified). Please note that certain types of genetic alterations including trinucleotide repeat expansions, methylation abnormalities, and balanced rearrangements (e.g., inversions, reciprocal translocations) may not be detected by the current analysis.
Specimen Requirements
Maternal Sample: A maternal sample is required. Accepted maternal sample types include whole blood, saliva/saliva swab, and extracted DNA. Collect 3-4ml of whole blood in an EDTA (lavender top) tube. Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
Saliva samples must be submitted in an approved saliva kit.
Blood and saliva kits are available by request.
Transport Instructions
The specimen should be kept at room temperature and delivered via overnight shipping. Do not freeze the specimen.
Prenatal Testing Information
Prenatal diagnosis can be requested when there are ultrasound findings suggestive of a diagnosis. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests.
Prenatal Specimen Requirements
Amniotic Fluid: Direct amniotic fluid will be accepted for analysis given there is sufficient volume for back-up culture to be established. A back-up culture at a reference lab OR Greenwood lab is required. Additional charges may apply if cell culture is required after receipt of the sample. If sending direct fluid for molecular analysis only, 10-20 ml of amniotic fluid is requested. Chromosome studies will require an additional 10-15 ml of fluid.
Chorionic Villi Sample (CVS): 10-50 mg of chorionic villi is requested in a sterile tube with CVS media. Direct testing on CVS is not available; an additional 1-3 weeks may be needed for cultures to grow.
Cultured amniocytes/CVS: 2x T25 confluent flasks
Maternal Sample: A maternal sample is required. Accepted maternal sample types include whole blood, saliva/saliva swab, and extracted DNA. Collect 3-4ml of whole blood in an EDTA (lavender top) tube. Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
Saliva samples must be submitted in an approved saliva kit.
Blood and saliva kits are available by request.
Prenatal Transport Instructions
Amniotic fluid should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. FedEx is preferred.
CVS and cultured amniocytes should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. FedEx is preferred.
The blood specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Please contact the lab with any questions.
Extracted DNA should be sent at room temperature via overnight delivery.
Saliva is stable at room temperature and can be delivered via overnight or ground shipping.
Associated Tests
- Acid Sphingomyelinase Deficiency (ASMD): SMPD1 Sequencing
- Fabry Disease: GLA Sequencing
- GM1 Gangliosidosis/Morquio Syndrome B (MPS IVB): GLB1 Sequencing
- Gaucher Disease: GBA Sequencing
- Hurler Syndrome (MPS I): IDUA Sequencing
- Maternal Cell Contamination
- Morquio Syndrome A (MPS IVA): GALNS Sequencing
- Prenatal Exome Sequencing – Duo Analysis
- QUICK Analysis
- Sialidosis: NEU1 Sequencing
- Sly Syndrome (MPS VII): GUSB Sequencing
- Whole Exome Sequencing, Singleton Analysis
- Whole Genome Sequencing, Singleton Analysis
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC