planTrue Genetic Carrier Screening

planTrue carrier testing from True Health determines if a person is a carrier for conditions that may be passed along to future children, such as cystic fibrosis, spinal muscular atrophy, fragile x, and more. Using state-of-the-art technology, the planTrue carrier screen provides the detailed information and resources that clinicians need to guide patients as they plan for the future of their families.

The Need

Testing

Results

Patient Information

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Why a carrier screen?

Almost everyone is a carrier for at least one genetic condition. Most carriers do not show symptoms of the condition. However, their offspring may still be at risk for the condition if their partner is also a carrier for the same condition. Carrier testing helps uncover this risk by identifying specific gene variants for multiple types of disorders.

The planTrue Carrier Screening Process

Prospective parent receives a carrier screening.

If the test is positive, testing for their partner should be considered.

If both partners test positive, follow-up options from your provider may include assistive reproductive technologies, prenatal testing, and/or family planning.

Who should receive testing?

The American College of Obstetrics and Gynecology (ACOG) recommends that all women who are pregnant or considering pregnancy be offered carrier testing for cystic fibrosis and spinal muscular atrophy. Testing for additional conditions may be considered for patients according to family history, ethnicity, or other factors.

5 Focused Assessments to Pinpoint Meaningful Risk

planTrue offers 5 testing options covering multiple genetic conditions. Genes were selected based on clinical criteria published by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG). Single gene testing is also available for any individual gene, including a full menu of more than 200 genes.

planTrue Basic: 3 CONDITIONS

  • Cystic Fibrosis (CF)
  • Duchenne Muscular Dystrophy (DMD)
  • Spinal Muscular Atrophy (SMA)

planTrue Standard: 24 CONDITIONS

  • Alpha-Thalassemia: HBA1-Related (HBA1)
  • Alpha-Thalassemia: HBA2-Related (HBA2)
  • Beta Thalassemia (HBB)
  • Bloom Syndrome (BLM)
  • Canavan Disease (ASPA)
  • Cystic Fibrosis (CFTR)
  • Familial Dysautonomia (IKBKAP)
  • Familial Hyperinsulinism, Type 1: ABCC8-Related (ABCC8)
  • Fanconi Anemia, Type C (FANCC)
  • Gaucher Disease (GBA)
  • Glycogen Storage Disease, Type 1A (G6PC)
  • Joubert Syndrome: TMEM216- Related (TMEM216)
  • Lipoamide Dehydrogenase Deficiency (DLD)
  • Maple Syrup Urine Disease: BCKDHB-Related (BCKDHB)
  • Mucolipidosis, Type 4: MCOLN1- Related (MCOLN1)
  • Nemaline Myopathy: NEB-Related (NEB)
  • Niemann-Pick Disease: SMPD1- Related (SMPD1)
  • Sandhoff Disease (HEXB)
  • Sickle Cell Anemia (HBB)
  • Spinal Muscular Atrophy: SMN1- Related (SMN1)
  • Tay-Sachs Disease (HEXA)
  • Usher Syndrome, Type 3 (CLRN1)
  • Usher Syndrome, Type 1F (PCDH15)
  • Walker-Warburg Syndrome: FKTN-Related (FKTN)

ACOG & ACMG Screen: 15 CONDITIONS

  • Bloom Syndrome (BLM)
  • Canavan Disease (ASPA)
  • Cystic Fibrosis (CFTR)
  • Familial Dysautonomia (IKBKAP)
  • Familial Hyperinsulinism, Type 1: ABCC8-Related (ABCC8)
  • Fanconi Anemia, Type C (FANCC)
  • Gaucher Disease (GBA)
  • Glycogen Storage Disease, Type 1A (G6PC)
  • Joubert Syndrome: TMEM216- Related (TMEM216)
  • Lipoamide Dehydrogenase Deficiency (DLD)
  • Maple Syrup Urine Disease: BCKDHB-Related (BCKDHB)
  • Mucolipidosis, Type 4: MCOLN1- Related (MCOLN1)
  • Nemaline Myopathy: NEB-Related (NEB)
  • Niemann-Pick Disease: SMPD1- Related (SMPD1)
  • Sandhoff Disease (HEXB)
  • Spinal Muscular Atrophy: SMN1- Related (SMN1)
  • Tay-Sachs Disease (HEXA)
  • Usher Syndrome, Type 3 (CLRN1)
  • Usher Syndrome, Type 1F (PCDH15)

Jewish Screen: 19 CONDITIONS

  • Bloom Syndrome (BLM)
  • Canavan Disease (ASPA)
  • Cystic Fibrosis (CFTR)
  • Familial Dysautonomia (IKBKAP)
  • Familial Hyperinsulinism, Type 1: ABCC8-Related (ABCC8)
  • Fanconi Anemia, Type C (FANCC)
  • Gaucher Disease (GBA)
  • Glycogen Storage Disease, Type 1A (G6PC)
  • Joubert Syndrome: TMEM216- Related (TMEM216)
  • Lipoamide Dehydrogenase Deficiency (DLD)
  • Maple Syrup Urine Disease: BCKDHB-Related (BCKDHB)
  • Mucolipidosis, Type 4: MCOLN1- Related (MCOLN1)
  • Nemaline Myopathy: NEB-Related (NEB)
  • Niemann-Pick Disease: SMPD1- Related (SMPD1)
  • Sandhoff Disease (HEXB)
  • Spinal Muscular Atrophy: SMN1- Related (SMN1)
  • Tay-Sachs Disease (HEXA)
  • Usher Syndrome, Type 3 (CLRN1)
  • Usher Syndrome, Type 1F (PCDH15)

planTrue Extended: 82 CONDITIONS

  • 21-Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia (CYP21A2)
  • Adrenoleukodystrophy: X-Linked (ABCD1)
  • Alkaptonuria (HGD)
  • Alpha-Thalassemia: HBA1-Related (HBA1)
  • Alpha-Thalassemia: HBA2-Related (HBA2)
  • AR Hypophosphatasia (ALPL)
  • Aspartylglycosaminuria (AGA)
  • Ataxia with Vitamin E Deficiency (TTPA)
  • Ataxia-Telangiectasia (ATM)
  • Autosomal Recessive Polycystic Kidney Disease (PKHD1)
  • Bardet-Biedl Syndrome: BBS1- Related (BBS1)
  • Beta Thalassemia (HBB) Biotinidase Deficiency (BTD)
  • Bloom Syndrome (BLM)
  • Canavan Disease (ASPA)
  • Cartilage-Hair Hypoplasia (RMRP)
  • Classical Galactosemia (GALT)
  • Combined Pituitary Hormone Deficiency: PROP1-Related (PROP1)
  • Congenital Disorder of Glycosylation, Type 1A: PMM2- Related (PMM2)
  • Cystic Fibrosis (CFTR)
  • Cystinosis (CTNS)
  • Dihydropyrimidine Dehydrogenase Deficiency (DPYD)
  • Dystrophinopathies (Duchenne and Becker Muscular Dystrophies) (DMD)
  • Factor XI Deficiency (Hemophilia C) (F11)
  • Familial Dysautonomia (IKBKAP)
  • Familial Hyperinsulinism, Type 1: ABCC8-Related (ABCC8)
  • Familial Hyperinsulinism, Type 2: KCNJ11-Related (KCNJ11)
  • Familial Mediterranean Fever (MEFV)
  • Fanconi Anemia, Type C (FANCC)
  • Fragile X Syndrome (FMR1)
  • Gaucher Disease (GBA)
  • Glutaric Acidemia, Type 1 (GCDH)
  • Glycogen Storage Disease, Type 1A (G6PC)
  • Glycogen Storage Disease, Type 2 (GAA)
  • Glycogen Storage Disease, Type 3 (AGL)
  • GM1-Gangliosidoses (GLB1)
  • Hereditary Fructose Intolerance (ALDOB)
  • Homocystinuria Caused by CBS Deficiency (CBS)
  • Joubert Syndrome: TMEM216- Related (TMEM216)
  • Juvenile Retinoschisis: X-Linked (RS1)
  • Leigh Syndrome: French-Canadian (LRPPRC)
  • Lipoamide Dehydrogenase Deficiency (DLD)
  • Maple Syrup Urine Disease: BCKDHA-Related (BCKDHA)
  • Maple Syrup Urine Disease: BCKDHB-Related (BCKDHB)
  • Meckel Gruber Syndrome: Type 1 (MKS1)
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
  • Metachromatic Leukodystrophy: ARSA-Related (ARSA)
  • Mucolipidosis, Type 2: GNPTAB-Related (GNPTAB)
  • Mucolipidosis, Type 4: MCOLN1- Related (MCOLN1)
  • Muscle-Eye-Brain Disease (POMGNT1)
  • Nemaline Myopathy: NEB-Related (NEB)
  • Nemaline Myopathy: TNNT1- Related (TNNT1)
  • Nephronophthisis: NPHP1-Related (NPHP1)
  • Neuronal Ceroid-Lipofuscinosis: CLN5-Related (CLN5)
  • Neuronal Ceroid-Lipofuscinosis: PPT1-Related (PPT1)
  • Neuronal Ceroid-Lipofuscinosis: TPP1-Related (TPP1)
  • Niemann-Pick Disease, Type C1 (NPC1)
  • Niemann-Pick Disease: SMPD1- Related (SMPD1)
  • Nonsyndromic Hearing Loss and Deafness: GJB2-Related (GJB2)
  • Pendred Syndrome (SLC26A4)
  • Phenylalanine Hydroxylase Deficiency (PAH)
  • Polyglandular Autoimmune Syndrome, Type 1 (AIRE)
  • Primary Carnitine Deficiency (SLC22A5)
  • Rickets, Pseudo-Vitamin D Deficiency (CYP27B1)
  • Salla Disease (SLC17A5)
  • Sandhoff Disease (HEXB)
  • Sickle Cell Anemia (HBB)
  • Sjogren-Larsson Syndrome (ALDH3A2)
  • Smith-Lemli-Opitz Syndrome (DHCR7)
  • Spinal Muscular Atrophy: SMN1- Related (SMN1)
  • Sulfate Transporter-Related Osteochondrodysplasia (SLC26A2)
  • Tay-Sachs Disease (HEXA)
  • Tyrosinemia, Type I (FAH)
  • Usher Syndrome, Type 1C (USH1C)
  • Usher Syndrome, Type 1D (CDH23)
  • Usher Syndrome, Type 3 (CLRN1)
  • Usher Syndrome, Type 1B (MYO7A)
  • Usher Syndrome, Type 1F (PCDH15)
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
  • Walker-Warburg Syndrome: FKTN-Related (FKTN)
  • Wilson Disease (ATP7B)
  • Wiskott-Aldrich Syndrome (WAS)

Clear and Actionable Reporting

planTrue’s color-coded test results report two possible outcomes:

POSITIVE: A pathogenic variant was detected. The patient is a carrier.

NEGATIVE: No pathogenic variants detected in the genes tested.

All planTrue reports include a personalized Patient Guide to help patients and clinicians understand and interpret the results, and consider possible next steps.

Better Insight. Better Planning.

Genetic conditions cause a wide spectrum of symptoms, ranging from mild to fatal. For some conditions, there are effective treatments available. The results from a planTrue genetic carrier screen can help patients understand the value of further testing, and empower them with as much information as possible to make decisions about their future healthcare.

Patient Information

Carrier Screening

Q: What is carrier testing?

A: Carrier screenings look for genetic changes, or “variants”, in specific genes that are associated with certain congenital conditions, such as cystic fibrosis, spinal muscular atrophy, fragile X, and more.

Q: Who should receive carrier testing?

A: The American College of Obstetrics and Gynecology (ACOG)recommends that all women who are pregnant or considering pregnancy consider carrier testing for cystic fibrosis and spinal muscular atrophy. Testing for additional conditions may be considered according to your family history, ethnicity, and other factors.

Q: Should I still receive testing even if I do not have symptoms or family history of a condition?

A: Almost everyone is a carrier for at least one genetic condition, meaning they have an inherited change in one copy of a specific gene. Most carriers do not show symptoms of the condition. However, their offspring may still be at risk for the condition. This is because, for recessive disorders, if the offspring inherits two changes in a gene—one from each parent—they will have the condition, even if the parents have no symptoms. If you discover you are a carrier, testing your partner will be helpful for detecting possible risk to future offspring.

Q: What conditions does planTrue test for?

A: planTrue gives your clinician the option of testing for multiple conditions at once. These include common conditions that the American College of Obstetrics and Gynecology (ACOG) recommends for all women who are pregnant or considering pregnancy. See tests included in planTrue testing.

Q: How do I request planTrue carrier testing?

A: planTrue carrier testing must be ordered for you by a licensed healthcare provider. Download this information and share it with your clinician at your next appointment. Ask if planTrue testing is right for you.

Q: How can I learn more about planTrue carrier testing?

A: Download our brochure, or call us at 1.877.443.5227. Download patient brochure. Download clinician guide.

Common Genetic Conditions Covered in Carrier Screening

Cystic Fibrosis

Q: What is cystic fibrosis?

A: Cystic fibrosis, caused by variants in the CFTR gene, causes excess thick and sticky mucus. Symptoms may include breathing problems, impaired sweating, lung infection, lung damage, gastrointestinal problems, diabetes, and infertility in males.1 Cystic fibrosis follows an autosomal recessive inheritance pattern, meaning that if both parents are carriers, each pregnancy has a 25% change to inherit the condition.

Q: How common is cystic fibrosis?

A: Cystic fibrosis occurs in 1 in 2,500 to 3,500 Caucasian newborns, in approximately 1 in 17,000 African Americans, and 1 in 31,000 Asian Americans.2 1 in 29 people in the US general population is a carrier, meaning they inherited one variant in the CFTR gene. Carriers usually do not show symptoms of CF.

Q: How is cystic fibrosis managed?

A: Common management options focus on preventing and controlling lung infections and intestinal blockages through physical therapy, medication, and lifestyle modifications.Severe cases may require lung transplantation.

1Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in Medicine. 2013;15(3):178-186.
2https://ghr.nlm.nih.gov/condition/cystic-fibrosis#inheritance
3https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis

Dystrophinopathies

Q: What are the dystrophinopathies ?

A: The dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), which primarily affect males, but can also affect females. These conditions are caused by variants in the DMD gene. DMD is more severe and has earlier age of onset. Symptoms include progressive muscle weakness, damage to heart muscle, breathing problems, loss of walking, and sometimes learning disability. BMD is milder and occurs later in life.4 These conditions follow an X-linked inheritance pattern, meaning each male pregnancy of a female carrier has a 50% chance to be affected, and each female pregnancy of a female carrier has a 50% chance to be a carrier. Some female carriers of either disorder may develop mild symptoms in adulthood.

Q: How common are dystrophinopathies?

A: Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males worldwide.Negative female carrier testing does not rule out DMD in male offspring, because 30% of mutations occur spontaneously in the embryo.

Q: How are dystrophinopathies managed?

A: Treatment focuses on maximizing quality of life by using physical therapy, mobility aids, and steroid prescriptions to control the symptoms and complications of severe muscle weakness and loss.6

4https://www.fda.gov/ucm/groups/fdagov-public/@fdagov-drugs-gen/documents/document/ucm450229.pdf
5https://www.cdc.gov/ncbddd/musculardystrophy/facts.html
6https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy

Spinal Muscular Atrophy

Q: What is spinal muscular atrophy?

A: Spinal Muscular Atrophy, caused by variants in the SMN1 gene, causes weakness, shortening and hardening of muscles, curvature of the spine, breathing difficulties, failure to thrive, and sleep disturbances. Effects vary from mild to severe. 7 Spinal muscular atrophy follows an autosomal recessive inheritance pattern, meaning that if both parents are carriers, each pregnancy has a 25% chance to inherit the condition.

Q: How common is spinal muscular atrophy?

A: Spinal muscular atrophy affects somewhere between 1 in 6,000 to 1 in 10,000 people.8  The U.S. carrier frequency is about 1 in 50.

Q: How is spinal muscular atrophy managed?

A: Treatment involves lifestyle management to alleviate symptoms, including specialized nutrition, physical therapy, and assistive equipment.9

7https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
8https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy#statistics
9https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/treatment/

Fragile X Syndrome

Q: What is fragile X syndrome?

A: Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and premature ovarian insufficiency (POI) are known as FMR1-related disorders. Fragile X syndrome is the most common cause of learning disability and autism in males. Females may also be affected, but usually less severely.10 Fragile X syndrome follows an X-linked inheritance pattern, meaning that each male pregnancy of a female carrier has a 50% chance to be affected, and each female pregnancy of a female carrier has a 50% chance to be a carrier. Some carriers may also be at risk for the later-onset conditions of FXTAS and POI.

Q: How common is fragile X syndrome?

A: Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.11

Q: How is fragile X syndrome managed?

A: Treatment for fragile X syndrome involves supportive therapy such as special education, medication, and specific treatments for vision, hearing, or heart problems.12

10https://ghr.nlm.nih.gov/condition/fragile-x-syndrome#diagnosis
11https://ghr.nlm.nih.gov/condition/fragile-x-syndrome#statistics
12https://www.genome.gov/19518828/learning-about-fragile-x-syndrome/

Specimen Collection

Q: What kinds of specimens are accepted for planTrue testing?

A: True Health accepts both blood and saliva specimens for planTrue testing. Specimen collection should take place with a licensed healthcare professional.

Q: What can I expect during my blood draw?

A: Your clinician will take blood from your arm using a needle. Your blood sample will then be sent to the True Health laboratory for testing.

Q: What can I expect when I submit a saliva sample?

A: Your clinician will ask you to spit a small amount of saliva into a funnel. Your saliva sample will then be sent to True Health for testing. It is important that you do not eat, drink, or chew gum for 30 minutes before your saliva collection.

Billing

Q: Will insurance cover planTrue testing?

A: Insurance coverage will vary according to your insurer and health benefit plan. Check with your insurer to find out if this testing is covered. True Health accepts all major insurance.

Q: How much will I owe for planTrue testing?

A: The amount you may owe will vary according to your insurance coverage. We are committed to accessible testing, and will contact you with your estimated out-of-pocket costs before we proceed with testing. Testing will not be performed without your agreement and permission. If you choose not to proceed with testing, a testing cancellation form will be sent to your provider for his or her signature.

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