Who Would Benefit from Carrier Screening?
1
A couple considering having biological children
Discover if you carry a gene for specific disorders. If done before or during pregnancy, it helps determine the chances of having a child with a genetic disorder.
2
A person with known genetic conditions in their ancestry
Ideal for women considering pregnancy or already pregnant, especially with a family history of certain genetic conditions. This includes cystic fibrosis, hemoglobinopathies, Fragile X conditions, spinal muscular atrophy (SMA), and other disorders.
3
People interested in their carrier status
Expanded carrier screening analyzes one sample to screen for numerous disorders, irrespective of the individual's race or ethnicity. Knowledge of your genome can dramatically impact quality of life from an early age.
What Type of Carrier Screening Should I Get?
- Expanded Carrier Screening. This broad test allows you and/or your partner to be screened for a much greater number of disorders than simple carrier screening based only on your ethnicity, race, or family history. It covers an extensive list of diseases in addition to those recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
- ACOG/ACMG Female Carrier Screen. This test is relevant for everyone, regardless of their background or ethnicity. Some diseases are more prevalent in specific ethnic groups. Pregnant women, those considering pregnancy, and individuals planning to become egg or sperm donors should consider carrier screening. The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) recommend carrier screening for the disorders covered in this panel.
- Female Carrier Screen. This screening panel is a comprehensive test that examines 30 genes for harmful mutations that can lead to autosomal recessive and X-linked disorders. These disorders are commonly found in the general population, with certain populations having an even higher carrier frequency, but differ in terms of their impact on health, risk of death, and available treatments.
How Do I Order a Test?
A printed copy of the requisition form must be submitted with the specimen if you are not placing your order through the online portal. You can find and print a copy of the requisition form here. If you need to modify your order, please contact client services.
Carrier Screening Panel Best Practices
Preferred Specimen
2mL whole blood in purple-top EDTA tube (K2EDTA or K3EDTA)
Alternate Specimens
- Saliva
- Buccal swab
- gDNA
Let's get started!
How to Ship Your Samples
Follow IATA Regulations
Please note that Psomagen sample collection kits are built to protect the samples from being damaged during transport and to comply with the International Air Transport Association (IATA) regulation. If you are using packaging other than that provided by Psomagen, please make sure to follow the "three layers of packaging" rule to avoid the risk of having the package destroyed by the courier:
- A primary sample receptacle sealed (collection tube).
- A leak-proof specimen bag containing absorbent material.
- An outer packaging that meets the local postal regulations and is labeled as “Exempt Human Specimen.”
For more information please refer to page 187 of IATA Dangerous Goods Regulation.
Additional Shipment Requirements
For saliva, ship at room temperature (overnight shipping is not necessary).
For blood, we recommend using overnight shipping the same day that the blood is collected.
- Blood can be kept at room temperature for up to 48 hours.
- We request that blood is refrigerated no longer than two weeks.
- Please do not freeze blood as deletion/duplication analysis is not supported for frozen or partially frozen blood.
Please ship the specimen in a crush-proof container via FedEx Priority Overnight (in accordance with the FedEx Packaging Guidelines for Clinical Samples.
Our US Shipping Address
Attn: Clinical Laboratory Testing Personnel
Psomagen Inc.
1330 Piccard Drive, Ste 103
Rockville, MD 20850
test for 825 disorder related genes
Expanded Carrier Screening (825)
ALOXE3
C19orf12
CAD
CERS3
COASY
CP
CYP4F22
DCAF17
FA2H
ITPA
LIPN
MKS1
NBAS
NIPAL4
PLA2G6
PNPLA1
SDR9C7
SLC27A4
TGM1
TRMU
AAAS
ABCA12
ABCA3
ABCA4
ABCB11
ABCB4
ABCC8
ABCD1
ABCD4
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACOX1
ACSF3
ADA
ADAMTS2
ADGRG1
ADGRV1
ADK
AFF2
AGA
AGL
AGPAT2
AGPS
AGXT
AHCY
AHI1
AICDA
AIMP1
AIPL1
AIRE
AK2
AKR1D1
ALDH3A2
ALDH4A1
ALDH7A1
ALDOB
ALG1
ALG12
ALG3
ALG6
ALMS1
ALOX12B
ALOXE3
ALPL
AMH
AMHR2
AMN
AMPD2
AMT
ANO10
ANO5
ANTXR2
AP1S1
AP1S2
AP3B1
AP3D1
APOPT1
AQP2
AR
ARG1
ARL13B
ARL6
ARSA
ARSB
ARSE
ARX
ASL
ASNS
ASPA
ASS1
ATM
ATP13A2
ATP6V0A2
ATP6V0A4
ATP6V1B1
ATP6V1E1
ATP7A
ATP7B
ATP8B1
ATRX
AVPR2
B9D1
B9D2
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCHE
BCKDHA
BCKDHB
BCS1L
BLM
BLOC1S3
BLOC1S6
BMP1
BMPER
BRIP1
BRWD3
BSND
BTD
BTK
C19orf12
C8orf37
CAD
CANT1
CAPN3
CASP14
CASQ2
CASR
CAVIN1
CBS
CC2D1A
CC2D2A
CCDC103
CCDC151
CCDC39
CCDC8
CCDC88C
CCN6
CD247
CD3D
CD3E
CD3G
CD40
CD40LG
CD59
CD8A
CDAN1
CDCA7
CDH23
CEP104
CEP152
CEP290
CERKL
CERS3
CFTR
CHM
CHMP1A
CHRNE
CHRNG
CHST6
CIB2
CIITA
CLCF1
CLCN1
CLCN5
CLCNKB
CLN3
CLN5
CLN6
CLN8
CLP1
CLRN1
CNGA1
CNGA3
CNGB1
CNGB3
CNTNAP2
COASY
COL11A2
COL17A1
COL27A1
COL4A3
COL4A4
COL4A5
COL7A1
COLQ
COQ4
CORO1A
COX10
COX15
COX20
COX6B1
CP
CPLANE1
CPS1
CPT1A
CPT2
CRADD
CRB1
CRLF1
CRTAP
CRYL1
CTC1
CTNS
CTSA
CTSC
CTSD
CTSF
CTSK
CUL4B
CUL7
CWC27
CYBA
CYBB
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP19A1
CYP1B1
CYP21A2
CYP27A1
CYP27B1
CYP4F22
CYP7B1
DBT
DCAF17
DCLRE1C
DCX
DDB2
DDC
DDR2
DDX11
DGUOK
DHCR24
DHCR7
DHDDS
DKC1
DLAT
DLD
DLG3
DLL3
DMD
DNAH5
DNAI1
DNAI2
DNAL1
DNMT3B
DOCK8
DOK7
DOLK
DPYD
DTNBP1
DUOX2
DUOXA2
DYNC2H1
DYSF
EDA
EFEMP2
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELP1
EMD
EPB42
ERBB3
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ESCO2
ETFA
ETFB
ETFDH
ETHE1
EVC
EVC2
EXOSC3
EYS
F11
F2
F5
F7
F8
F9
FA2H
FAH
FAM126A
FAM161A
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FBP1
FBXL4
FGD1
FH
FHL1
FKBP10
FKRP
FKTN
FMO3
FMR1
FOLR1
FOXN1
FOXP3
FOXRED1
FRAS1
FREM2
FTSJ1
FUCA1
FXN
G6PC
G6PC1
G6PC3
G6PD
GAA
GALC
GALE
GALK1
GALNS
GALNT3
GALT
GAMT
GATM
GBA
GBA1
GBE1
GCDH
GDAP1
GDF5
GFM1
GFPT1
GHR
GHRHR
GJB1
GJB2
GJB6
GLA
GLB1
GLDC
GLE1
GNE
GNPAT
GNPTAB
GNPTG
GNRHR
GNS
GORAB
GP1BA
GP9
GPHN
GPR143
GRHPR
GRIP1
GSS
GUCY2D
GUSB
GYS2
HADH
HADHA
HADHB
HAMP
HAX1
HBA1
HBA2
HBB
HCFC1
HELLS
HEXA
HEXB
HFE
HGD
HGSNAT
HINT1
HJV
HLCS
HMGCL
HMGCS2
HOGA1
HPD
HPS1
HPS3
HPS4
HPS5
HPS6
HSD17B10
HSD17B3
HSD17B4
HSD3B2
HSD3B7
HYAL1
HYCC1
HYLS1
IDH3B
IDS
IDUA
IFT140
IGHMBP2
IGSF1
IKBKB
IL1RAPL1
IL2RA
IL2RG
IL7R
INPP5E
INVS
ITGA2B
ITGA6
ITGB3
ITGB4
ITPA
IVD
IYD
JAK3
KCNJ1
KCNJ11
KCTD7
KDM5C
KIF14
L1CAM
LAMA2
LAMA3
LAMB3
LAMC2
LAMP2
LARS
LARS1
LCA5
LCK
LDLR
LDLRAP1
LHCGR
LHX3
LIFR
LIG4
LIPA
LIPN
LMAN1
LMBRD1
LOXHD1
LPAR6
LPL
LRAT
LRP2
LRPPRC
LTBP4
LYST
MAK
MALT1
MAN2B1
MANBA
MAT1A
MCCC1
MCCC2
MCEE
MCOLN1
MCPH1
MED17
MEFV
MEGF8
MESP2
MFSD8
MID1
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MMUT
MOCS2
MPI
MPL
MPV17
MRE11
MTHFD1
MTHFR
MTM1
MTMR2
MTR
MTRR
MTTP
MUT
MVK
MYO15A
MYO7A
NAGA
NAGLU
NAGS
NBAS
NBEAL2
NBN
NCF2
NCF4
NDP
NDRG1
NDUFA11
NDUFAF2
NDUFAF5
NDUFS4
NDUFS6
NDUFS7
NDUFV1
NEB
NEU1
NGLY1
NHEJ1
NIPAL4
NONO
NPC1
NPC2
NPHP1
NPHP3
NPHS1
NPHS2
NR0B1
NR2E3
NTRK1
OAT
OBSL1
OCA2
OCRL
OPA3
OPHN1
OSTM1
OTC
OTOF
P3H1
PAH
PAK3
PANK2
PC
PCBD1
PCCA
PCCB
PCDH15
PCNT
PDE6A
PDHA1
PDHB
PDHX
PDP1
PEPD
PET100
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PFKM
PGK1
PGM3
PHF8
PHGDH
PHKA1
PHKA2
PHKB
PHKG2
PHYH
PIGN
PIP5K1C
PJVK
PKHD1
PLA2G6
PLEKHG5
PLOD1
PLOD2
PLP1
PMM2
PNP
PNPLA1
PNPO
POC1A
POLG
POLH
POLR1C
POMGNT1
POMT1
POMT2
POR
POU1F1
POU3F4
PPIB
PPT1
PQBP1
PRCD
PRDM5
PRF1
PRICKLE1
PRKDC
PROP1
PRPS1
PSAP
PTPRC
PTS
PUS1
PYCR1
PYGL
PYGM
QDPR
RAB23
RAG1
RAG2
RAPSN
RARS2
RAX
RD3
RDH12
RDH5
RFX5
RFXANK
RFXAP
RHAG
RLBP1
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
ROGDI
RP2
RPE65
RPGR
RPGRIP1
RPGRIP1L
RPS6KA3
RSPH9
RTEL1
SACS
SAG
SAMD9
SAMHD1
SARS2
SBDS
SCO1
SCO2
SDCCAG8
SDR9C7
SEC23B
SELENON
SEPSECS
SERPINA1
SERPINF1
SGCA
SGCB
SGCD
SGCG
SGSH
SH3TC2
SKIC2
SKIC3
SKIV2L
SLC12A1
SLC12A3
SLC12A6
SLC16A2
SLC17A5
SLC19A2
SLC19A3
SLC1A4
SLC22A5
SLC25A13
SLC25A15
SLC25A20
SLC26A2
SLC26A3
SLC26A4
SLC27A4
SLC2A10
SLC2A2
SLC34A3
SLC35A3
SLC37A4
SLC39A4
SLC3A1
SLC45A2
SLC46A1
SLC4A1
SLC4A11
SLC5A5
SLC6A19
SLC6A8
SLC7A7
SLC7A9
SMARCAL1
SMN1
SMPD1
SNAP29
SNX10
SP110
SPATA7
SPG11
SPG21
SPG7
SPINK5
SPR
SRD5A2
ST3GAL5
STAR
STK4
STX11
STXBP2
SUCLA2
SUMF1
SUOX
SURF1
SYN1
SYNE4
TAFAZZIN
TAT
TAZ
TBCE
TBX19
TCIRG1
TCTN1
TCTN2
TCTN3
TECPR2
TERT
TF
TFR2
TG
TGM1
TH
THOC2
TK2
TMC1
TMEM138
TMEM216
TMEM231
TMEM237
TMEM38B
TMEM67
TMEM70
TMPRSS3
TNFSF11
TNXB
TPO
TPP1
TRAPPC11
TRDN
TREX1
TRHR
TRIM32
TRIM37
TRMU
TRPM6
TSEN2
TSEN34
TSEN54
TSFM
TSHB
TSHR
TTC37
TTC7A
TTC8
TTPA
TULP1
TYMP
TYR
TYRP1
UGT1A1
UNC13D
UNG
UPF3B
USH1C
USH1G
USH2A
VDR
VLDLR
VPS13A
VPS13B
VPS45
VPS53
VRK1
VSX2
WAS
WHRN
WISP3
WNT1
WNT10A
WRN
XPA
XPC
ZAP70
ZBTB24
ZDHHC9
ZFYVE26
ZNF469
ZNF711
ACOG/ACMG Female Carrier Screen (15)
BLM
CFTR
ELP1
FANCC (9q22.32)
GBA (1q22)
HBA1 (16p13.3)
HBB (11p15.4)
HEXA (15q23)
SMN1 (5q13.2)
SMPD1 (11p15.4)
Female Carrier Screen (30)
ASPA
ASS1
BLM
CFTR
CLN3
DMD
ELP1
FAH
FANCC
FMR1
GAA
GALT
GBA
HBA1
HBA2
HEXA
IDUA
IVD
MMACHC
PAH
PEX7
PKHD1
PMM2
SMN1
SMPD1
References
- Kurnit KC, et al. Obstet Gynecol.2021;137(1):108–121. Family history as a risk assessment tool. Committee Opinion No. 478. American College of Obstetricians and Gynecologists. Obstet Gynecol 2011;117:747–50. [PubMed] [Obstetrics & Gynecology]
- Hereditary cancer syndromes and risk assessment. Committee Opinion No. 634. American College of Obstetricians and Gynecologists. Obstet Gynecol 2015;125:1538–43. [PubMed] [Obstetrics & Gynecology]
- Prior TW. Carrier screening for spinal muscular atrophy. Professional Practice and Guidelines Committee. Genet Med 2008;10:840–2. [PubMed] [Full Text]
- Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A 2010;152A:1608–16.[PubMed]
- Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002;4:20–6. [PubMed] [Full Text]
- Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel [published errata appear in Genet Med 2005;7:286; Genet Med 2004;6:548]. Genet Med 2004;6:387–91. [PubMed] [Full Text]
- Cystic Fibrosis Foundation. 2015 patient registry annual data report . Bethesda (MD): CFF; 2016. Available at: https://www.cff.org/Our-Research/CF-Patient-Registry/2015-Patient-Registry-Annual-Data-Report.pdf. Retrieved February 6, 2017.
- American College of Medical Genetics and Genomics. Technical standards and guidelines for CFTR mutation testing. American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories . Bethesda (MD): ACMG; 2011. Available at: http://www.acmg.net/docs/CFTR_Mutation_Testing_2011.pdf. Retrieved September 12, 2016.
- Cystic Fibrosis Centre, Hospital for Sick Children. Cystic fibrosis mutation database . Available at: http://www.genet.sickkids.on.ca/CFTR/app. Retrieved September 12, 2016.
- Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387–91. [PubMed] [Full Text]
- Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med 2010;38:S512–21. [PubMed] [Full Text]
- Davies SC, Cronin E, Gill M, Greengross P, Hickman M, Normand C. Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research. Health Technol Assess 2000;4:i-v, 1–99. [PubMed]
- Duffy TP. Hematologic aspects of pregnancy. In: Burrow GN, Duffy TP, Copel JA, editors. Medical complications during pregnancy . Philadelphia (PA): Elsevier Saunders; 2004. p. 69–86.
- Kazazian HHJr. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 1990;27:209–28. [PubMed]
- Serjeant GR, Serjeant BE. Sickle cell disease . 3rd ed.New York (NY): Oxford University Press; 2001.
- Hatton DD, Sideris J, Skinner M, Mankowski J, Bailey DB Jr, Roberts J, et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A 2006;140A:1804–13. [PubMed]
- Kronquist KE, Sherman SL, Spector EB. Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med 2008;10:845–7. [PubMed] [Full Text]
- Monaghan KG, Lyon E, Spector EB. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med 2013; 15:575–86. [PubMed] [Full Text]
- Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, et al. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 2000;20:611–4. [PubMed]
- Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet Gynecol 2008;111:596–601. [PubMed] [Obstetrics & Gynecology]
- Willemsen R, Bontekoe CJ, Severijnen LA, Oostra BA. Timing of the absence of FMR1 expression in full mutation chorionic villi. Hum Genet 2002;110:601–5. [PubMed]
- Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. Am J Med Genet 2002;110:253–7. [PubMed]
- Fanconi Anemia Research Fund. Fanconi anemia: guidelines for diagnosis and management . 4th ed.Eugene (OR): FARF; 2014. Available at:http://fanconi.org/images/uploads/other/FA_Guidelines_4th_Edition_Revised_Names_in_Appendix.pdf. Retrieved September 12, 2016.
- Hoffman JD, Greger V, Strovel ET, Blitzer MG, Umbarger MA, Kennedy C, et al. Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening. Mol Genet Genomic Med 2013;1:260–8. [PubMed] [Full Text]
- vanBael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM. Heterozygosity for Tay–Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. J Med Genet 1996;33:829–32. [PubMed] [Full Text]
- Schneider A, Nakagawa S, Keep R, Dorsainville D, Charrow J, Aleck K, et al. Population-based Tay–Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing. Am J Med Genet A 2009;149A:2444–7