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Coverage criteria policies

Genetic Testing: Carrier Screening, Prenatal Screening, Prenatal Diagnosis, and Infertility Evaluation

These services may or may not be covered by all HealthPartners plans. Please see your plan documents for your own coverage information. If there is a difference between this general information and your plan documents, your plan documents will be used to determine your coverage.

Administrative Process

Prior authorization is required for the following services:

  • Noninvasive prenatal screening (NIPS) for microdeletion/microduplication syndromes and all indications other than screening for common aneuploidies and sex chromosome aneuploidies
  • All other reproductive-related genetic testing not specified below as a service which does not require prior authorization

Prior authorization is not required for the following services:

  • Targeted carrier screening and carrier screening using a limited multiple gene panel consisting exclusively of genes relevant to the personal and/or family history or ethnic background of the individual being tested
  • Expanded carrier screening panels
  • Cytogenetic studies following fetal demise or stillbirth
  • Karyotype for evaluation of recurrent pregnancy loss
  • Genetic infertility evaluation
  • Noninvasive prenatal screening (NIPS) for common aneuploidies and sex chromosome aneuploidies
  • Preimplantation genetic diagnosis
  • Prenatal genetic diagnosis

For genetic testing related to coagulation disorders, see the Genetic Testing: Coagulation Disorders and Cardiovascular Risk Assessments coverage policy.

For post-natal genetic testing related to multiple congenital anomalies, see the Genetic Testing for Neurodevelopmental Disorders, Epilepsy and Seizure Disorders, and Multiple Congenital Anomalies coverage policy.

For non-genetic evaluation of infertility, see the Infertility Diagnosis -- Female and Infertility Diagnosis -- Male coverage policies.

For preimplantation genetic diagnosis and/or screening, see the covered and non-covered indications outlined below. Note that any associated procedures are outside the scope of this coverage policy, including the use of assisted reproductive technology and specimen collection procedures.

Coverage

Indications that are covered

Carrier Screening

Targeted carrier screening for genetic or chromosomal abnormalities or carrier screening using a limited multiple gene panel consisting exclusively of genes relevant to the personal and/or family history or ethnic background of the individual being tested are covered. This includes, but is not limited to, the following services:

  • Carrier screening for cystic fibrosis using a standard or an expanded CFTR mutation analysis panel
  • Carrier screening for spinal muscular atrophy
  • Carrier screening assays specific to the ethnic background of the member being tested
  • Carrier screening for a condition which has affected a first- or second-degree relative and/or a previous pregnancy of the member being tested or for which a first- or second-degree relative of the member being tested is a known carrier
  • Carrier screening for a condition which has affected the reproductive partner of the member being tested or for which the reproductive partner of the member being tested is a known carrier

Expanded carrier screening panels (see definition below) are covered when criteria 1-3 listed below are met:

  1. The results will be used to directly impact a family planning decision.
  2. The panel has been ordered by a board-certified medical geneticist, maternal-fetal medicine specialist/perinatologist; a licensed, certified genetic counselor; or an advanced practice nurse in genetics or maternal-fetal medicine/perinatology.
  3. The member has received genetic counseling with a board-certified genetic counselor, and advanced practice nurse in genetics, or a medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
Genetic Evaluation of Fetal Demise or Stillbirth

Cytogenetic studies (e.g. karyotype, chromosomal microarray analysis [CMA]) are covered for fetal demise or stillbirth (see definitions below).

Genetic Evaluation of Recurrent Pregnancy Loss

Karyotype of parent(s) and/or products of conception is covered for recurrent pregnancy loss (see definition below).

Genetic Infertility Evaluation

Karyotype for infertility evaluation in males and females is covered when criteria 1-2 listed below are met:

  1. The individual to be tested has been unable to achieve conception despite at least one year of appropriately-timed, unprotected intercourse or use of assisted reproductive technology.
  2. The test has been ordered by a board-certified geneticist, endocrinologist, or reproductive medicine specialist; licensed, certified genetic counselor; or advanced practice nurse in genetics, endocrinology, or reproductive medicine.

CFTR gene analysis for infertility evaluation in males and females is covered when criteria 1-3 listed below are met:

  1. The individual to be tested has been unable to achieve conception despite at least one year of appropriately-timed, unprotected intercourse or use of assisted reproductive technology.
  2. The male partner has documented azoospermia related to congenital bilateral obstruction of the epididymis or absence of the vas deferens.
  3. Previous testing of the male partner has included all of the following:
  • Serum luteinizing hormone (LH)
  • Serum follicle-stimulation hormone (FSH)
  • Serum testosterone concentration

FMR1 gene analysis for infertility evaluation in females is covered when criteria 1-5 listed below are met:

  1. The individual to be tested has been unable to achieve conception despite at least one year of appropriately-timed, unprotected intercourse or use of assisted reproductive technology.
  2. The test has been ordered by a board-certified geneticist, endocrinologist, or reproductive medicine specialist; licensed, certified genetic counselor; or advanced practice nurse in genetics, endocrinology, or reproductive medicine.
  3. The member has received genetic counseling with a board-certified genetic counselor, and advanced practice nurse in genetics, or a medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
  4. The member has a clinical presentation consistent with primary ovarian insufficiency (POI) or a family history of POI.
  5. Previous testing has included all of the following:
  • Pregnancy test
  • Serum follicle-stimulating hormone (FSH)
  • Serum prolactin
  • Thyroid function
  • Antiadrenal antibodies

Y-chromosome microdeletion analysis for infertility evaluation in males is covered, when criteria 1-4 listed below are met:

  1. The individual to be tested has been unable to achieve conception despite at least one year of appropriately timed unprotected intercourse or use of assisted reproductive technology.
  2. The test has been ordered by a board-certified geneticist, endocrinologist, or reproductive medicine specialist; licensed, certified genetic counselor; or advanced practice nurse in genetics, endocrinology, or reproductive medicine.
  3. The member has received genetic counseling with a board-certified genetic counselor, and advanced practice nurse in genetics, or a medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
  4. The member has documented nonobstructive azoospermia or severe oligospermia, with a sperm concentration of 5 million/mL or less.
Non-Invasive Prenatal Screening (NIPS)

Non-invasive prenatal screening (NIPS) for common aneuploidies and sex chromosome aneuploidies is covered. This is limited to the following services:

  • Screening for common fetal aneuploidies (trisomies 13, 18, and 21)
  • Screening for fetal sex chromosome aneuploidies

Non-invasive prenatal screening (NIPS) for microdeletion/microduplication syndromes is covered when criteria 1-3 listed below are met:

  1. The results will be used to directly impact a family planning decision.
  2. The screening has been ordered by a board-certified geneticist; a licensed, certified genetic counselor; or an advanced practice nurse in genetics.
  3. The member has received genetic counseling with a board-certified genetic counselor, and advanced practice nurse in genetics, or a medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (see definition below) is covered when criteria 1-6 listed below are met:

  1. The results will be used to directly impact a family planning decision.
  2. The test has been ordered by a board-certified medical geneticist, maternal-fetal medicine specialist/perinatologist; a licensed, certified genetic counselor; or an advanced practice nurse in genetics or maternal-fetal medicine/perinatology.
  3. The member has received genetic counseling with a board-certified genetic counselor, and advanced practice nurse in genetics, or a medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
  4. The genetic counselor, advanced practice registered nurse in genetics, or medical geneticist certifies that the embryo(s) to be evaluated are at-risk for a specified condition.
  5. The test is recommended for any of the following indications:
  • Sex selection for an X-linked condition when at least one parent is a known carrier
  • To diagnose a specific, detectable single gene mutation related to an autosomal dominant condition when at least one parent is a known carrier
  • To diagnosis a specific, detectable single gene mutation related to an X-linked condition when the female partner is a known carrier
  • To diagnose specific, detectable single gene mutations related to an autosomal recessive condition when both parents are known carriers
  • To test for chromosome rearrangements when at least one parent is a known carrier of a balanced translocation or other structural chromosomal rearrangement
  • To test for chromosome rearrangements when the male parent is a carrier of a sex chromosome abnormality
  1. The requested test does not involve analysis of multiple genes or multiple conditions, except in cases where criteria 1-5 above are independently met for each gene or condition being evaluated.
Prenatal Genetic Diagnosis

Invasive prenatal genetic diagnosis for a suspected genetic condition is covered. This includes, but is not limited to, the following services:

  • Sex selection for an X-linked condition when at least one parent is a known carrier
  • Diagnosis of a specific, detectable single gene mutation related to an autosomal dominant condition when at least one parent is a known carrier
  • Diagnosis of a specific, detectable single gene mutation related to an X-linked condition when the female partner is a known carrier
  • Diagnosis of a specific, detectable single gene mutations related to an autosomal recessive condition when both parents are known carriers
  • Diagnosis of chromosome rearrangements when at least one parent is a known carrier of a balanced translocation or other structural chromosomal rearrangement
  • Diagnosis of chromosome rearrangements when the male parent is a carrier of a sex chromosome abnormality
  • Confirmatory diagnosis of a condition detected during previous clinical or laboratory screening
  • Evaluation of a pregnancy at high risk for aneuploidies
Genetic testing for reproductive-related indications other than described above is subject to a review for medical necessity, based on current clinical literature and expert recommendations, unless listed below as an indication that is not covered.

Indications that are not covered

  1. Genetic testing for any reproductive-related indication is not covered and is considered not medically necessary when test results will not directly impact the treatment or management of a condition because the testing is not expected to restore or maintain the member’s health, prevent deterioration of the member’s condition, nor prevent the reasonably likely onset of a health problem or detect an incipient problem.
  2. Repeat testing of a unique analyte using the identical method of analysis is not covered and is considered not medically necessary because it is not considered an appropriate frequency of care.
  3. Physician interpretation and reporting is considered integral to the primary procedure, if performed, and is not eligible for separate coverage.
  4. Short tandem repeat (STR) analysis to detect maternal cell contamination is considered integral to the primary procedure, ineligible for separate coverage, and not medically necessary because it is not within the practice parameters of the general medical community.
  5. Multiple-gene panels that include genes not associated with the specific condition under evaluation are not covered and are considered not medically necessary because they are not considered an appropriate type of service for the member’s condition.
  6. The following services are not covered and are considered not medically necessary because they are not within the practice parameters of the general medical community:
  • Paternity testing
  • Genetic testing to determine fetal sex or other nonmedical traits
  • Direct-to-consumer genetic testing
  • Y chromosome microdeletion analysis as a routine test prior to use of an assisted reproductive technology
  1. The following services are not covered and are considered experimental/investigational because reliable evidence does not permit conclusions regarding safety, effectiveness, or effect on health outcomes:
  • Evaluation of maternal plasma microRNA
  • Fetal RhD genotyping assays
  • Human leukoctye antigen (HLA) genotyping for infertility evaluation
  • MTHFR gene analysis
  • Non-invasive prenatal screening for conditions other than described above under Indications that are Covered
  • Non-invasive prenatal screening using maternal urinary markers
  • POLG gene analysis for infertility evaluation
  • Preimplantation genetic diagnosis for determining HLA status
  • Preimplantation genetic screening, including, but not limited to, optimization of in vitro fertilization (IVF) and screening for aneuploidies (see definition below)
  • Prenatal genetic diagnosis performed as a routine service following use of an assisted reproductive technology
  • Sperm DNA condensation analysis
  • Sperm DNA fragmentation/integrity analysis
  • Whole exome sequencing/trio whole exome sequencing for reproductive-related indications
  • Whole genome non-invasive prenatal screening

Definitions

Aneuploidy is the presence of an abnormal number of chromosomes.

Assisted reproductive technology, for purposes of this coverage policy, includes all procedures used to achieve pregnancy other than intercourse, including, but not limited to, in vitro fertilization (IVF), artificial insemination (AI), intracytoplasmic sperm injection (ICSI), zygote intrafallopian transfer (ZIFT), and gamete intrafallopian transfer (GIFT).

Common aneuploidies, for purposes of this coverage policy, are limited to trisomy 13, trisomy 18, and/or trisomy 21.

Expanded carrier screening panels screen for carrier status in a prospective or expectant parent for multiple conditions for which that individual and/or a future or ongoing pregnancy is not known to be at risk based on family history or ethnic background.

Fetal demise or stillbirth is the occurrence of a pregnancy loss involuntarily ending a pregnancy after 20 weeks gestation.

First-degree relative is an individual’s parent, sibling, or child.

Genetic Testing may involve analysis of DNA, genes, chromosomes , RNA, etc., to identify whether a person has a particular inherited trait or disorder, or an acquired genetic change, or whether he or she carries a gene variant that could lead to a specific disease or condition.

Infertility is the failure to achieve a successful pregnancy after 12 months or more of appropriately timed unprotected intercourse or use of assisted reproductive technology.

Microdeletion/microduplication syndrome are caused by small deletions or duplications spanning several genes within a chromosome.

Noninvasive prenatal screening, also known as prenatal cell-free DNA (cfDNA) screening, is used to screen for certain conditions which may affect an ongoing pregnancy by evaluating a maternal blood sample.

Preimplantation genetic diagnosis is a procedure used prior to implantation to detect genetic defects in embryo(s) considered to be at risk based on family history.

Preimplantation genetic screening is a procedure used prior to implantation to identify embryo(s) at risk for certain genetic defects.

Prenatal genetic diagnosis is used to diagnose certain conditions which may affect an ongoing pregnancy by evaluating a sample obtained through an invasive procedure such as amniocentesis or chorionic villus sampling.

Recurrent pregnancy loss is the occurrence of two or more pregnancy losses involuntarily ending each pregnancy prior to 20 weeks gestation.

Second-degree relative is an individual’s grandparent, grandchild, aunt, uncle, nephew, niece, or half-sibling.

If available, codes are listed below for informational purposes only, and do not guarantee member coverage or provider reimbursement. The list may not be all-inclusive.

Code

Description

G0452

Molecular pathology procedure; physician interpretation and report

0009M

Fetal aneuploidy (trisomy 21, and 18) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy

81161

DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy) deletion analysis, and duplication analysis, if performed

81200

ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X)

81205

BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X)

81209

BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant

81220

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines)

81221

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; known familial variants

81222

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion variants

81223

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence

81224

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; intron 8 poly-T analysis (eg, male infertility)

81228

Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis)

81229

Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities

81242

FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T)

81243

FMR1 (Fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; evaluation to detect abnormal (eg, expanded) alleles

81244

FMR1 (Fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; characterization of alleles (eg, expanded size and methylation status)

81247

G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; common variant(s) (eg, A, A-)

81248

G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; known familial variants

81249

G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; full gene sequence

81250

G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X)

81251

GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A)

81255

HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S)

81257

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis, common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, and Constant Spring)

81258

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; full gene sequence

81259

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; known familial variant

81265

Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing, or maternal cell contamination of fetal cells)

81266

Comparative analysis using Short Tandem Repeat (STR) markers; each additional specimen (eg, additional cord blood donor, additional fetal samples from different cultures, or additional zygosity in multiple birth pregnancies) (List separately in addition to code for primary procedure)

81269

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants

81290

MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb)

81291

MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C)

81330

SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330)

81361

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, HbS, HbC, HbE)

81362

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); known familial variant(s)

81363

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion variant(s)

81364

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); full gene sequence

81412

Ashkenazi Jewish associated disorders (eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1

81415

Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis

81416

Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure)

81417

Exome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome)

81420

Fetal chromosomal aneuploidy (eg, trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21

81422

Fetal chromosomal microdeletion(s) genomic sequence analysis (eg, DiGeorge syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood

81507

Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy

88230

Tissue culture for non-neoplastic disorders; lymphocyte

88233

Tissue culture for non-neoplastic disorders; skin or other solid tissue biopsy

88235

Tissue culture for non-neoplastic disorders; amniotic fluid or chorionic villus cells

88261

Chromosome analysis; count 5 cells, 1 karyotype, with banding

88262

Chromosome analysis; count 15-20 cells, 2 karyotypes, with banding

88263

Chromosome analysis; count 45 cells for mosaicism, 2 karyotypes, with banding

88264

Chromosome analysis; analyze 20-25 cells

88267

Chromosome analysis, amniotic fluid or chorionic villus, count 15 cells, 1 karyotype, with banding

88269

Chromosome analysis, in situ for amniotic fluid cells, count cells from 6-12 colonies, 1 karyotype, with banding

88271

Molecular cytogenetics; DNA probe, each (eg, FISH)

88272

Molecular cytogenetics; chromosomal in situ hybridization, analyze 3-5 cells (eg, for derivatives and markers)

88273

Molecular cytogenetics; chromosomal in situ hybridization, analyze 10-30 cells (eg, for microdeletions)

88274

Molecular cytogenetics; interphase in situ hybridization, analyze 25-99 cells

88275

Molecular cytogenetics; interphase in situ hybridization, analyze 100-300 cells

88280

Chromosome analysis; additional karyotypes, each study

88283

Chromosome analysis; additional specialized banding technique (eg, NOR, C-banding)

88285

Chromosome analysis; additional cells counted, each study

88289

Chromosome analysis; additional high resolution study

88291

Cytogenetics and molecular cytogenetics, interpretation and report

CPT Copyright American Medical Association. All rights reserved. CPT is a registered trademark of the American Medical Association

Products

This information is for most, but not all, HealthPartners plans. Please read your plan documents to see if your plan has limits or will not cover some items. If there is a difference between this general information and your plan documents, your plan documents will be used to determine your coverage. These coverage criteria may not apply to Medicare Products if Medicare requires different coverage. For more information regarding Medicare coverage criteria or for a copy of a Medicare coverage policy, contact Member Services at 952-883-7979 or 1-800-233-9645.

References

  1. American College of Obstetricians and Gynecologists & Society for Maternal-Fetal Medicine. (2016). Practice bulletin: Screening for fetal aneuploidy. Washington, DC: American College of Obstetricians and Gynecologists.
  2. American College of Obstetricians and Gynecologists Committee on Adolescent Health Care. (2014). ACOG Committee Opinion No. 605: primary ovarian insufficiency in adolescents and young women. Obstetrics and Gynecology, 124, 193-197.
  3. American College of Obstetricians and Gynecologists Committee on Genetics. (2017). Committee opinion no. 691: Carrier screening for genetic conditions. Obstetrics and Gynecology, 129, e41-e55.
  4. Committee on Genetics and the Society for Maternal-Fetal Medicine. (2016). Committee opinion no. 682: Microarrays and next-generation sequencing technology: The use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstetrics and Gynecology, 128, e262-e268.
  5. ECRI Institute. (2016a). Family Prep Screen (Counsyl, Inc.) for screening carrier status for multiple genetic diseases. Plymouth Landing, PA: ECRI Institute.
  6. ECRI Institute. (2016b). Harmony Prenatal Test (Ariosa Diagnostics) for determining risk of fetal aneuploidy (trisomy 13, 18, 21; X and Y aneuploidy). Plymouth Landing, PA: ECRI Institute.
  7. ECRI Institute. (2017a). AneuVysion Test (Abbott Laboratories, Inc.) for diagnosing fetal chromosomal aneuploidies. Plymouth Landing, PA: ECRI Institute.
  8. ECRI Institute. (2017b). Anora Miscarriage Test (Natera, Inc.) to aid in determining cause of pregnancy loss. Plymouth Landing, PA: ECRI Institute.
  9. ECRI Institute. (2017c). Panorama Cell-free Fetal DNA Test (Natera, Inc.) for prenatal screening. Plymouth Landing, PA: ECRI Institute.
  10. Friel, L. A., Czerwinski, J. L., & Singletary, C. N. (2014). The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine. American Journal of Perinatology, 31, 759-764.
  11. Gregg, A. R., Skotko, B. G., Benkendorf, J. L., Monaghan, K. G., Bajaj, K., Best, R. G., . . . Watson, M. S. (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 18, 1056-1065.
  12. Hayes, Inc. (2014a). Autosomal recessive hereditary spastic paraplegia (AR-HSP). Philadelphia, PA: Hayes, Inc.
  13. Hayes, Inc. (2014b). CFnext. Philadelphia, PA: Hayes, Inc.
  14. Hayes, Inc. (2014c). Duchenne/Becker muscular dystrophy (DMD/BMD). Philadelphia, PA: Hayes, Inc.
  15. Hayes, Inc. (2014d). PLP1-related disorders (including Pelizaeus-Merzbacher disease [PMD]). Philadelphia, PA: Hayes, Inc.
  16. Hayes, Inc. (2014e). Thyroid hormone receptor beta (THRB) gene testing in resistance to thyroid hormone (RTH). Philadelphia, PA: Hayes, Inc.
  17. Hayes, Inc. (2015a). Citrin deficiency. Philadelphia, PA: Hayes, Inc.
  18. Hayes, Inc. (2015b). Cystic fibrosis transmembrane regulator (CFTR) testing for cystic fibrosis. Philadelphia, PA: Hayes, Inc.
  19. Hayes, Inc. (2015c). ELANE testing for neutropenia. Philadelphia, PA: Hayes, Inc.
  20. Hayes, Inc. (2015d). Familial Mediterranean fever (FMF). Philadelphia, PA: Hayes, Inc.
  21. Hayes, Inc. (2015e). L1 syndrome (L1CAM-related disorders). Philadelphia, PA: Hayes, Inc.
  22. Hayes, Inc. (2015f). Multiple endocrine neoplasia type 2 (MEN2). Philadelphia, PA: Hayes, Inc.
  23. Hayes, Inc. (2015g). Noninvasive prenatal testing (NIPT). Philadelphia, PA: Hayes, Inc.
  24. Hayes, Inc. (2015h). SensiGene:Fetal RHD genotyping. Philadelphia, PA: Hayes, Inc.
  25. Hayes, Inc. (2017a). Genetic testing for fragile X syndrome. Philadelphia, PA: Hayes, Inc.
  26. Hayes, Inc. (2017b). Family Prep Screen (Counsyl Inc.). Philadelphia, PA: Hayes, Inc.
  27. Kuohung, W., & Hornstein, M. D. (2016). Evaluation of female infertility. In: R. L. Barbieri, D. Levine, & K. Eckler (Eds.). UpToDate. Waltham, MA: UpToDate.
  28. Lim, R. M., Silver, A. J., Silver, M. J., Borroto, C., Spurrier, B., Petrossian, T. C., . . . Silver, L. M. (2016). Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk. Genetics in Medicine, 18, 174-179.
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  30. Palomaki, G. E., Kloza, E. M., O’Brien, B. M., Eklund, E. E., & Lambert-Messerlian, G. M. (2017). The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population. Genetics in Medicine, doi: 10.1038/gim.2016.194.
  31. Palomaki, G. E., Messerlian, G. M., & Halliday, J. V. (2017). Prenatal screening for common aneuploidies using cell-free DNA. In: L. Wilkins-Haug & V. A. Barss (Eds.). UpToDate. Waltham, MA: UpToDate.
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  33. Practice Committee of the American Society for Reproductive Medicine. (2012). Evaluation and treatment of recurrent pregnancy loss: A committee opinion. Fertility and Sterility, 98, 1103-1111.
  34. Roman, A. S. (2017). Carrier screening for genetic disease in the Ashkenazi Jewish population. In: L. Wilkins-Haug & V. A. Barss (Eds.). UpToDate. Waltham, MA: UpToDate.
  35. Swerdloff, R. S., & Wang, C. (2015). Evaluation of male infertility. In: P. J. Snyder, A. M., Matsumoto, & K. A. Martin (Eds.). UpToDate. Waltham, MA: UpToDate.
  36. Tulandi, T., & Al-Fozan, H. M. (2017). Evaluation of couples with recurrent pregnancy loss. In: C. J. Lockwood & K. Eckler (Eds.). UpToDate. Waltham, MA: UpToDate.
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Policy activity

  • 01/01/1994 - Date of origin
  • 11/01/2017 - Effective date
Review date
  • 09/2017
Revision date
  • 08/09/2017

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