Primary Ciliary Dyskinesia (PCD) and Related Disorders Genetic Testing
Primary ciliary dyskinesia is a disorder of the lungs and other body systems.
Early diagnosis helps maintain well-being and reduce long-term health
problems. Ambry offers a comprehensive panel of the most common PCDrelated genes, which uses next generation sequencing (NGS) technology to
accurately diagnose patients.
disease information
Primary ciliary dyskinesia (PCD), also called immotile cilia syndrome (ICS), is a genetically
heterogeneous condition condition that affects an estimated 25,000 Americans, many of
whom remain undiagnosed because symptoms can be so variable. PCD affects the cilia
(small, hair-like structures that promote movement in the airways, ears, sinuses, and other
tissues). When cilia do not function properly, health of the respiratory tract and other
systems is compromised. As a result frequent lung, ear, sinus, and throat infections are
common. Respiratory distress can be seen at birth.
About half of those with PCD have their chest and abdominal organs arranged in a mirror
image from their usual positions (situs inversus). When a person has PCD with situs
inversus, it is also known as Kartagener syndrome.
In addition, at least 6% of individuals with PCD have heterotaxy (situs ambiguous), a
repositioning of some internal organs (but not the complete mirror image). Heterotaxy
can cause other health problems, including congenital heart disease and other lifethreatening conditions. The prevalence of congenital heart disease is about 200 times
higher in people with PCD than in the general population. Fertility problems can also be
common in adults with PCD.
test information
Mutations causing PCD have been identified in many genes, both autosomal and
X-linked. Ambry’s PCD and Related Disorders Panel includes analysis of DNAI1, DNAI2,
DNAH5, DNAH11, TXNDC3, RSPH4A, RSPH9, DNAAF1, DNAAF, and CFTR (autosomal
genes), as well as RPGR and OFD (X-linked genes).
benefits of pcd and related disorders panel
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Most sensitive genetic test available for PCD and related disorders
Increased mutation detection rate over traditional sequencing
More efficient, cost-effective than Sanger sequencing genes in parallel
Confirmation of a diagnosis to adjust medical management
Accurate risk assessment for family members
OPTIMIZED TEST DESIGN
Ambry’s tests are created to maximize
yield, minimize turnaround time, and
control costs through step-wise testing
when appropriate.
INSURANCE
Ambry is contracted with the majority
of health plans and Medicare. All outof-network patients are treated as innetwork to minimize out-of-pocket costs.
Medicaid coverage varies by state and
preverification is recommended.
PATIENT PROTECTION PLAN
If your patient’s out-of-pocket financial
responsibility is potentially greater than
$100, Ambry will contact him/her for
verbal approval prior to initiating the
test. We remain committed to working
with you and your patients to make the
genetic testing process as simple and cost
effective as possible.
CLINICAL SUPPORT
Board-certified physicians and genetic
counselors are available to assist with test
selection and result interpretation.
CUSTOMER SERVICE
Responsive, knowledgeable
representatives are always ready
to answer your questions. We also
offer easy-to-read result reports and
complimentary sample submission kits to
make the testing process smoother.
ABOUT AMBRY GENETICS
Since 2001, we have performed hundreds
of thousands of genetic tests, and
identified more than 45,000 mutations in
greater than 500 different genes.
Primary Ciliary Dyskinesia (PCD) and Related Disorders Genetic Testing
why ambry
specimen requirements
• Next generation sequencing (NGS) panel for the most
common PCD-related genes
• Ongoing variant reclassification program
• Availability of Board-certified medical directors and genetic
counselors for case review and results interpretation
• Family Studies Program for variant interpretation (case-bycase)
• Help with insurance preverification
• Prepaid Specimen Submission Kits in the US and Canada
• Patient Protection Plan for billing
Blood: Collect 3-5 cc from adult or 2 cc minimum from child in
purple top EDTA tube (preferred) or yellow top citric acetate
tube. Store at 2-8°C and DO NOT FREEZE. Ship at room temp for
2-day delivery.
Blood Spot: Minimum of one complete spot ~0.5 inches in
diameter on S&S 903 collection paper or similar. Store in sterile
bag at room temperature. Ship at room temp for 2-day delivery.
Saliva: Collect 2cc of freshly collected saliva in OrageneTM
container per kit’s specific instructions. Store at and ship at room
temp for 2-day delivery.
DNA: 20 μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA);
preferred 200 μl at ~100 ng/μl. DNA OD 260/280 ratio
(preferred 1.7-1.9) and send agarose picture with high MW
genomic DNA, if available. Store at -20°C. Ship frozen on dry ice
(preferred) or ice for next-day delivery.
Prenatal: Prenatal testing is available. Please call an Ambry
genetic counselor to discuss your case.
NOTE: Complete specimen requirements can be found at
ambrygen.com.
12 genes represented on the pcd and related disorders sequencing panel
GENE
FULL GENE NAME
PUBLISHED PCD
CLINICAL
SENSITIVITY
DNAAF1
Dynein, axonemal, assembly factor 1
5%
DNAAF2
Dynein, axonemal, assembly factor 2
3.6%
DNAH5
Dynein, axonemal, heavy chain 5
28%
DNAH11
Dynein, axonemal, heavy chain 11
6-7%
DNAI1
Dynein, axonemal, intermediate chain 1
10%
DNAI2
Dynein, axonemal, intermediate chain 2
2-3%
RSPH4A
Radial spoke head protein 4 homolog A
2%
RSPH9
Radial spoke head protein 9 homolog
~1%
TXNDC3
Thioredoxin domain containing 3
4%
OFD1
Oral-facial-digital syndrome 1
<1%
RPGR
Retinitis pigmentosa GTPase regulator
<1%
CFTR
Cystic fibrosis transmembrane conductance regulator N/A
Total
60.6-65.6%
turnaround times
TEST CODE
TEST NAME
TURNAROUND TIME (WEEKS)
8122
PCD and Related Disorders Panel
12-16
Please visit www.ambrygen.com for more information and a complete listing of references used to develop clinical content.
50339.1521_v2
15 Argonaut, Aliso Viejo, CA 92656
Toll Free 866 262 7943
Fax 949 900 5501
ambrygen.com