Ciliopathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10431 ACVR2B 81479,81479 Order Options and Pricing
AHI1 81407,81479
AK7 81479,81479
ANKS6 81479,81479
ARL13B 81479,81479
ARL6 81479,81479
ARMC9 81479,81479
B9D1 81479,81479
B9D2 81479,81479
BBIP1 81479,81479
BBS1 81406,81479
BBS10 81404,81479
BBS12 81479,81479
BBS2 81406,81479
BBS4 81479,81479
BBS5 81479,81479
BBS7 81479,81479
BBS9 81479,81479
C2CD3 81479,81479
CC2D2A 81479,81479
CCDC103 81479,81479
CCDC39 81479,81479
CCDC40 81479,81479
CCDC65 81479,81479
CCNO 81479,81479
CEP104 81479,81479
CEP120 81479,81479
CEP164 81479,81479
CEP290 81408,81479
CEP41 81479,81479
CEP83 81479,81479
CFAP298 81479,81479
CFAP418 81479,81479
CFAP53 81479,81479
CFTR 81223,81222
CPLANE1 81479,81479
CSPP1 81479,81479
DCDC2 81479,81479
DNAAF1 81479,81479
DNAAF11 81479,81479
DNAAF2 81479,81479
DNAAF3 81479,81479
DNAAF4 81479,81479
DNAAF5 81479,81479
DNAAF6 81479,81479
DNAH1 81479,81479
DNAH11 81479,81479
DNAH5 81479,81479
DNAH6 81479,81479
DNAH8 81479,81479
DNAH9 81479,81479
DNAI1 81479,81479
DNAI2 81479,81479
DNAJB13 81479,81479
DNAL1 81479,81479
DRC1 81479,81479
FAM149B1 81479,81479
FOXH1 81479,81479
GAS8 81479,81479
GDF1 81479,81479
GLIS2 81479,81479
IFT172 81479,81479
IFT27 81479,81479
IFT74 81479,81479
INPP5E 81479,81479
INVS 81479,81479
IQCB1 81479,81479
KATNIP 81479,81479
KIAA0586 81479,81479
KIF14 81479,81479
KIF7 81479,81479
LEFTY2 81479,81479
LZTFL1 81479,81479
MCIDAS 81479,81479
MKKS 81479,81479
MKS1 81479,81479
MMP21 81479,81479
NEK8 81479,81479
NKX2-5 81479,81479
NME8 81479,81479
NODAL 81479,81479
NPHP1 81406,81405
NPHP3 81479,81479
NPHP4 81479,81479
ODAD1 81479,81479
ODAD2 81479,81479
ODAD3 81479,81479
ODAD4 81479,81479
OFD1 81479,81479
PDE6D 81479,81479
PIBF1 81479,81479
PKD1L1 81479,81479
PKD2 81406,81479
PKHD1 81408,81479
RPGR 81479,81479
RPGRIP1L 81479,81479
RSPH1 81479,81479
RSPH3 81479,81479
RSPH4A 81479,81479
RSPH9 81479,81479
SDCCAG8 81479,81479
SPAG1 81479,81479
SUFU 81479,81479
TCTN1 81479,81479
TCTN2 81479,81479
TCTN3 81479,81479
TMEM107 81479,81479
TMEM138 81479,81479
TMEM216 81479,81479
TMEM231 81479,81479
TMEM237 81479,81479
TMEM67 81407,81479
TRIM32 81479,81479
TTC21B 81479,81479
TTC8 81479,81479
TXNDC15 81479,81479
WDPCP 81479,81479
WDR19 81479,81479
ZIC3 81479,81479
ZMYND10 81479,81479
ZNF423 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10431Genes x (121)81479 81222, 81223, 81404, 81405, 81406, 81407, 81408, 81479 $1090 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Ciliopathies are a group of genetic disorders caused by disruption of formation or function of cilia. Ciliary dysfunction results in a broad range of phenotypes, including renal cystic and hepatobiliary disease, situs abnormalities, retinal degeneration, cerebellar anomalies, postaxial polydactyly, bronchiectasis and infertility. See individual disease summaries for information about clinical features and spectra of pathogenic variants.

Joubert (JBTS) Syndrome

Joubert Syndrome and related disorders (JSRD) are marked by hypotonia, abnormal ocular movements, neonatal respiratory difficulties, intellectual disability, hypoplasia of the cerebellar vermis, and malformation of the brainstem. The brain malformations lead to the "molar tooth sign" on cranial MRI, which is pathognomonic for JSRD. Other variable JSRD features include cystic kidneys, nephronophthisis, retinal dystrophy, ocular coloboma, occipital encephalocele, polydactyly, ataxia, and hepatic fibrosis. For more information, see Parisi and Glass. 2017. PubMed ID: 20301500; Doherty 2009. PubMed ID: 19778711; Parisi et al. 2007. PubMed ID: 17377524; Brancati et al. 2010. PubMed ID: 20615230.

Meckel Gruber Syndrome (MKS)

Meckel-Gruber Syndrome (MKS) is a lethal autosomal recessive condition, also marked by brain malformation, cystic renal disease and polydactyly (Alexiev et al. 2006. PubMed ID: 16879033; Hartill et al. 2017. PubMed ID: 29209597). In MKS, the pathognomonic feature is occipital encephalocele, which is generally identified during routine sonography between 12 and 20 weeks of gestation. MKS is a common cause of prenatal echogenic kidneys (Chaumoitre et al. 2006. PubMed ID: 17094077). Nearly all MKS infants are stillborn or die shortly after birth (Hartill et al. 2017. PubMed ID: 29209597; Parisi and Glass. 2017. PubMed ID: 20301500).

Bardet-Biedl Syndrome

Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder marked by primary features of obesity, polydactyly, pigmentary retinopathy, hypogonadism, renal anomalies and mental retardation (Elbedour et al. 1994. PubMed ID: 7802002; Sheffield 2010. PubMed ID: 20697559). Secondary features include diabetes, hypertension and congenital heart defects (Green et al. 1989. PubMed ID: 2779627). Although BBS is a rare condition, diagnosis is complicated by the fact that many of the clinical features (i.e. obesity, diabetes, hypertension and developmental delay) are common. In addition, many of the BBS clinical features overlap with those of other well-described developmental disorders, including Meckel-Gruber Syndrome (MKS), Joubert Syndrome (JBTS), Nephronophthisis (NPH), Senior-Loken Syndrome (SLS) and Leber Congenital Amaurosis (LCA). Thus, molecular testing is often useful for confirmation of a clinical diagnosis and to aid in the treatment and management of BBS.

Nephronophthisis and Senior-Loken syndrome

Nephronophthisis (NPH) is the most common genetic cause of progressive renal failure in children and young adults. NPH is characterized by polyuria, growth retardation and progressive deterioration of renal function with normal or slightly reduced kidney size (Hildebrandt et al. 1997. PubMed ID: 9326933; Hildebrandt et al. 2009. PubMed ID: 19118152). Nephronophthisis, when associated with Leber Congenital Amaurosis, is known as Senior-Loken syndrome (SLS) (Otto et al. 2005. PubMed ID: 15723066; Hildebrandt et al. 2009. PubMed ID: 19118152).

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a genetic disorder affecting the function of motile cilia (Leigh et al. 2009. PubMed ID: 19606528). The hallmark features of PCD are neonatal respiratory distress, chronic coughing, and recurrent sinus and/or ear infections; 80-100% of all PCD patients have one or more of these symptoms. In 20-50% of individuals with PCD, the major visceral organs are reversed from their normal positions (situs inversus) (Sutherland and Ware 2009. PubMed ID: 19876930). Kartagener’s syndrome is a condition defined by the symptomatic triad of situs inversus, sinusitis and bronchiectasis. Patients with PCD can also have abnormal orientation of some organs but not others (a condition called situs ambiguus or heterotaxy) (Kennedy et al. 2007. PubMed ID: 17515466). For more information, see GeneReviews (Zariwala et al. 2019. PubMed ID: 20301301).

Heterotaxy, Situs Inversus and Kartagener's syndrome

Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous disorder affecting the function of motile cilia (Leigh et al. 2009. PubMed ID: 19606528). The hallmark features of PCD are neonatal respiratory distress, chronic coughing, and recurrent sinus and/or ear infections; 80-100% of all PCD patients have one or more of these symptoms. In 20-50% of individuals with PCD, the major visceral organs are reversed from their normal positions, also called situs inversus (Sutherland and Ware 2009. PubMed ID: 19876930). Kartagener’s syndrome is a condition defined by the symptomatic triad of situs inversus, sinusitis and bronchiectasis. Patients with PCD can also have abnormal orientation of some organs but not others, a condition called situs ambiguus or heterotaxy (Kennedy et al. 2007. PubMed ID: 17515466). Heterotaxy syndrome results from a failure to properly establish left-right asymmetry during embryogenesis resulting in an abnormal arrangement of thoracic and/or abdominal visceral organs, including the heart, lungs, liver, spleen, intestines, and stomach. Affected patients frequently have significant morbidity and mortality due to a wide variety of cyanotic congenital heart defects. Common defects besides cardiac malformations include asplenia or polysplenia, left-sided liver, right-sided stomach, gastrointestinal malrotation, and altered lung lobation. Classic heterotaxy, cardiac malformations and visceral laterality defects, has an estimated prevalence of 1:10,000 live births (Lin et al. 2000. PubMed ID: 11256661).

Genetics

The ciliopathy disorders described above have been proposed to represent a single clinical entity, with a spectrum of overlapping symptoms and causative genes.

Joubert and Meckel-Gruber Syndromes

JSRD and MKS are genetically heterogeneous; JSRD is known to be caused by pathogenic variants in at least 33 different genes and MKS is caused by pathogenic variants in at least 22 different genes (Hartill et al. 2017. PubMed ID: 29209597; Parisi et al. 2017. PubMed ID: 20301500; Knopp et al. 2015. PubMed ID: 26003401; Shaheen et al. 2016. PubMed ID: 27894351). Most of the genes reported to cause MKS have also been found to cause JSRD, with the exception of B9D2, KIF14, NPHP3, and TTC21B. In addition, all genes reported to cause MKS and JSRD play some role in the structure, function and maintenance of the primary cilia and/or basal body organelle (Hildebrandt et al. 2009. PubMed ID: 19118152). Thus, MKS and JSRD have been proposed to represent a single clinical entity, with a spectrum of overlapping symptoms and causative genes. JSRD and MKS are inherited in an autosomal recessive manner with the exception of OFD1, which is inherited in an X-linked dominant manner.

Bardet-Biedl Syndrome

BBS is a genetically heterogeneous disorder known to be caused by pathogenic variants in at least 25 different genes including ARL6/BBS3, BBIP1/BBS18, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP164, CEP290/BBS14, C8orf37, IFT27/BBS19, IFT74/BBS20, IFT172, LZTFL1/BBS17, MKKS/BBS6, MKS1/BBS13, NPHP1, SDCCAG8/BBS16, TRIM32/BBS11, TTC8/BBS8, TTC21B, and WDPCP/BBS15 (Forsythe and Beales 2015. PubMed ID: 20301537; Leitch et al. 2008. PubMed ID: 18327255; Kim et al. 2010. PubMed ID: 20671153; Otto et al. 2010. PubMed ID: 20835237; Lindstrand et al. 2016. PubMed ID: 27486776; Heon et al. 2016. PubMed ID: 27008867; Bujakowska et al. 2015. PubMed ID: 25168386; Lindstrand et al. 2014. PubMed ID: 24746959). TMEM67 is included in this panel as it has been suggested to be a genetic modifier of the BBS phenotype (Leitch et al. 2008. PubMed ID: 18327255). BBS is marked by both intra- and inter-familial phenotypic variability. It has been suggested that BBS has an oligogenic inheritance pattern. Triallelism hypothesis states that three pathogenic alleles in two loci are necessary for BBS. This hypothesis attempts to explain variable expressivity and the observation that several individuals with BBS have been found to have a third rare, possibly pathogenic variant in a second BBS gene (Katsanis et al. 2001. PubMed ID: 11567139; Katsanis. 2004. PubMed ID: 14976158; Leitch et al. 2008. PubMed ID: 18327255). However, others have not found evidence for triallelic inheritance patterns in their cohorts (Smaoui et al. 2006. PubMed ID: 16877420; Abu-Safieh et al. 2012. PubMed ID: 22353939). In the majority of reported cases two pathogenic variants in one gene are sufficient for BBS. However, the severity may be modulated by an additional hypomorphic or loss of function allele(s) at another locus. It is recommended to use an autosomal recessive inheritance model when counseling patients and their families (Forsythe and Beales 2015. PubMed ID: 20301537).

Nephronophthisis and Senior-Loken syndrome

Nephronophthisis and Senior-Loken syndrome are genetically heterogeneous disorders. NPH and SLS are inherited in an autosomal recessive manner. NPH and SLS are caused by pathogenic variants in genes encoding proteins involved in cilia/centrosome structure, maintenance or function (Hildebrandt et al. 2009. PubMed ID: 19118152).

Primary Ciliary Dyskinesia Heterotaxy

Primary Ciliary Dyskinesia is caused by defects in motile cilia. Planar motion cilia (i.e. from the respiratory tract, brain, and reproductive tract) consist of nine microtubule doublets that surround a central core of two microtubules (9+2 configuration). Rotary motion cilia (i.e. those in the embryonal node) lack the central core microtubules (9+0 configuration). All motile cilia have inner and outer dynein arms attached at regular intervals to the nine peripheral microtubule doublets, which serve as molecular motors that drive microtubule sliding. For 9+2 cilia, radial spokes form a signal-transduction scaffold between the peripheral dynein arms and the central-core microtubule pair, giving these cilia their characteristic planar (i.e. forward and backward) motion. Motile cilia are very complex structures composed of roughly 250 proteins (Ferkol and Leigh 2006. PubMed ID: 17142159). To date, defects in over 40 genes have been reported to cause PCD, which is most commonly inherited in an autosomal recessive manner (Zariwala et al. 2019. PubMed ID: 20301301). Rarely, PCD has been found to be inherited in an X-linked manner due to loss-of-function variants in OFD1 or RPGR (Budny et al. 2006. PubMed ID: 16783569; Moore et al 2006. PubMed ID: 16055928). In addition, the INVS/NPHP2 gene has been associated with situs inversus either with or without biliary complications (Schon et al. 2002. PubMed ID: 11935322; Otto et al. 2003. PubMed ID: 12872123). Symptoms of cystic fibrosis can sometimes mimic those of PCD.

Heterotaxy, Situs Inversus and Kartagener's syndrome

Both PCD and heterotaxy are genetically heterogeneous. PCD can be caused by pathogenic variants in at least 39 genes and heterotaxy is caused by pathogenic variants in at least 9 genes (Zariwala et al. 2019. PubMed ID: 20301301). In addition, the INVS/NPHP2, ANKS6, PKD1L1, DNAH6, and DNAH9 genes have been associated with situs inversus or heterotaxy, either with or without biliary complications (Schon et al. 2002. PubMed ID: 11935322; Otto et al. 2003. PubMed ID: 12872123; Hoff et al. 2013. PubMed ID: 23793029; Vetrini et al. 2016. PubMed ID: 27616478; Li et al. 2016. PubMed ID: 26918822; Fassad. 2018. PubMed ID: 30471717). Thus, a common thread among all these genes is the association of laterality defects. ACVR2B, FOXH1, LEFTY2, NKX2-5 and NODAL genes are associated with autosomal dominant laterality defects, ZIC3 is associated with X-linked recessive heterotaxy, and AK7, ODAD2/ARMC4, ANKS6, CCDC103, ODAD1/CCDC114, CCDC39, CCDC40, ODAD3/CCDC151, CFAP53, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF5 (HEATR2), DNAI1, DNAI2, DNAH5, DNAH11, DNAL1, DNAAF4 (previously called DYX1C1), GAS8, INVS, LRRC6, MMP21, NME8, SPAG1, ODAD4/TTC25 and ZMYND10 are associated with autosomal recessive PCD with and without laterality defects. Heterozygous nonsense and missense variants in GDF1 were identified in individuals with conotruncal heart defects (TOF, DORV, TGA) without visceral laterality defects (Karkera et al. 2007. PubMed ID: 17924340). Two truncating variants in GDF1 were found to cause classic heterotaxy in one Finnish family with heterozygous carriers being asymptomatic (Kaasinen et al. 2010. PubMed ID: 20413652).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity for BBS is ~80% (Forsythe and Beales. 2015. PubMed ID: 20301537; Lindstrand et al. 2016. PubMed ID: 27486776).

Clinical sensitivity for Joubert syndrome and related disorders is 62%-94% (Parisi and Glass. 2017. PubMed ID: 20301500) and 50%-77% for Meckel-Gruber syndrome (Knopp et al. 2015. PubMed ID: 26003401; Hartill et al. 2017. PubMed ID: 29209597).

Clinical sensitivity for nephronophthisis is approximately 30% overall (Hildebrandt et al. 2009. PubMed ID: 19118152). Approximately 20% of individuals with nephronophthisis have a homozygous deletion encompassing the NPHP1 gene (Hoefele et al 2005. PubMed ID: 15776426; Hildebrandt et al 2009. PubMed ID: 19118152). This NGS test can detect the ~279 kb common NPHP1 deletion.

Clinical sensitivity for PCD is ~80% (Zariwala et al. 2019. PubMed ID: 20301301).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.2% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

This test is for patients with symptoms overlapping one or more of the ciliopathy disorders.

Genes

Official Gene Symbol OMIM ID
ACVR2B 602730
AHI1 608894
AK7 615364
ANKS6 615370
ARL13B 608922
ARL6 608845
ARMC9 617612
B9D1 614144
B9D2 611951
BBIP1 613605
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
C2CD3 615944
CC2D2A 612013
CCDC103 614677
CCDC39 613798
CCDC40 613799
CCDC65 611088
CCNO 607752
CEP104 616690
CEP120 613446
CEP164 614848
CEP290 610142
CEP41 610523
CEP83 615847
CFAP298 615494
CFAP418 614477
CFAP53 614759
CFTR 602421
CPLANE1 614571
CSPP1 611654
DCDC2 605755
DNAAF1 613190
DNAAF11 614930
DNAAF2 612517
DNAAF3 614566
DNAAF4 608706
DNAAF5 614864
DNAAF6 300933
DNAH1 603332
DNAH11 603339
DNAH5 603335
DNAH6 603336
DNAH8 603337
DNAH9 603330
DNAI1 604366
DNAI2 605483
DNAJB13 610263
DNAL1 610062
DRC1 615288
FAM149B1 0
FOXH1 603621
GAS8 605178
GDF1 602880
GLIS2 608539
IFT172 607386
IFT27 615870
IFT74 608040
INPP5E 613037
INVS 243305
IQCB1 609237
KATNIP 616650
KIAA0586 610178
KIF14 611279
KIF7 611254
LEFTY2 601877
LZTFL1 606568
MCIDAS 614086
MKKS 604896
MKS1 609883
MMP21 608416
NEK8 609799
NKX2-5 600584
NME8 607421
NODAL 601265
NPHP1 607100
NPHP3 608002
NPHP4 607215
ODAD1 615038
ODAD2 615408
ODAD3 615956
ODAD4 617095
OFD1 300170
PDE6D 602676
PIBF1 607532
PKD1L1 609721
PKD2 173910
PKHD1 606702
RPGR 312610
RPGRIP1L 610937
RSPH1 609314
RSPH3 615876
RSPH4A 612647
RSPH9 612648
SDCCAG8 613524
SPAG1 603395
SUFU 607035
TCTN1 609863
TCTN2 613846
TCTN3 613847
TMEM107 616183
TMEM138 614459
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM67 609884
TRIM32 602290
TTC21B 612014
TTC8 608132
TXNDC15 617778
WDPCP 613580
WDR19 608151
ZIC3 300265
ZMYND10 607070
ZNF423 604557
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Acrocallosal Syndrome, Schinzel Type AR 200990
Adolescent Nephronophthisis AR 604387
Atrial Septal Defect With Atrioventricular Conduction Defects AD 108900
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 14 AR 615991
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bardet-Biedl Syndrome 18 AR 615995
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 2 AR 615981
Bardet-Biedl Syndrome 20 AR 617119
Bardet-Biedl Syndrome 21 AR 617406
Bardet-Biedl Syndrome 3 AR 600151
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 8 AR 615985
Bardet-Biedl Syndrome 9 AR 615986
Ciliary Dyskinesia, Primary, 1 AR 244400
Ciliary Dyskinesia, Primary, 10 AR 612518
Ciliary Dyskinesia, Primary, 11 AR 612649
Ciliary Dyskinesia, Primary, 12 AR 612650
Ciliary Dyskinesia, Primary, 13 AR 613193
Ciliary Dyskinesia, Primary, 14 AR 613807
Ciliary Dyskinesia, Primary, 15 AR 613808
Ciliary Dyskinesia, Primary, 16 AR 614017
Ciliary Dyskinesia, Primary, 17 AR 614679
Ciliary Dyskinesia, Primary, 18 AR 614874
Ciliary Dyskinesia, Primary, 19 AR 614935
Ciliary Dyskinesia, Primary, 2 AR 606763
Ciliary Dyskinesia, Primary, 20 AR 615067
Ciliary Dyskinesia, Primary, 21 AR 615294
Ciliary Dyskinesia, Primary, 22 AR 615444
Ciliary Dyskinesia, Primary, 23 615451
Ciliary Dyskinesia, Primary, 24 AR 615481
Ciliary Dyskinesia, Primary, 25 AR 615482
Ciliary Dyskinesia, Primary, 26 AR 615500
Ciliary Dyskinesia, Primary, 27 AR 615504
Ciliary Dyskinesia, Primary, 28 AR 615505
Ciliary Dyskinesia, primary, 29 AR 615872
Ciliary Dyskinesia, Primary, 3 AR 608644
Ciliary Dyskinesia, Primary, 30 AR 616037
Ciliary Dyskinesia, Primary, 32 AR 616481
Ciliary Dyskinesia, Primary, 33 AR 616726
Ciliary Dyskinesia, Primary, 34 AR 617091
Ciliary Dyskinesia, Primary, 35 AR 617092
Ciliary Dyskinesia, Primary, 37 AR 617577
Ciliary dyskinesia, primary, 40 AR 618300
Ciliary dyskinesia, primary, 42 AR 618695
Ciliary Dyskinesia, Primary, 6 AR 610852
Ciliary Dyskinesia, Primary, 7 AR 611884
Ciliary Dyskinesia, Primary, 9 AR 612444
Cone-rod dystrophy 16 AR 614500
Conotruncal Heart Malformations AD 217095
Cranioectodermal Dysplasia 4 AR 614378
Cystic Fibrosis AR 219700
Deafness, Autosomal Recessive 28 AR 609823
Fallot Tetralogy AD 187500
Gorlin Syndrome AD 109400
Heterotaxy, Visceral, 4, Autosomal AD 613751
Heterotaxy, Visceral, 5 AD 270100
Heterotaxy, visceral, 6, autosomal recessive AR 614779
Heterotaxy, Visceral, 7, Autosomal AR 616749
Heterotaxy, visceral, 8, autosomal AR 617205
Heterotaxy, Visceral, X-Linked XL 306955
Hypoplastic Left Heart Syndrome 2 AD 614435
Hypothyroidism, Congenital, Nongoitrous, 5 AD 225250
Infantile Nephronophthisis AR 602088
Joubert Syndrome AR 614615
Joubert Syndrome 1 AR 213300
Joubert Syndrome 10 XL 300804
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 15 AR 614464
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert Syndrome 2 AR 608091
Joubert syndrome 20 AR 614970
Joubert Syndrome 21 AR 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 23 AR 616490
Joubert Syndrome 25 AR 616781
Joubert Syndrome 26 AR 616784
Joubert Syndrome 27 AR 617120
Joubert Syndrome 3 AR 608629
Joubert Syndrome 30 AR 617622
Joubert Syndrome 31 AR 617761
Joubert Syndrome 32 AR 617757
Joubert Syndrome 33 AR 617767
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Macular Degeneration, X-Linked Atrophic AR 300834
Mckusick Kaufman Syndrome AR 236700
Meckel Syndrome 1 AR 249000
Meckel Syndrome 10 AR 614175
Meckel syndrome 11 AR 615397
Meckel Syndrome 12 AR 616258
Meckel Syndrome 13 AR 617562
Meckel Syndrome 2 AR 603194
Meckel Syndrome 3 AR 607361
Meckel Syndrome 4 AR 611134
Meckel Syndrome 5 AR 611561
Meckel Syndrome 6 AR 612284
Meckel Syndrome 8 AR 613885
Meckel Syndrome 9 AR 614209
Medulloblastoma 155255
Meningioma, Familial 607174
Nephronophthisis AR 256100
Nephronophthisis 11 AR 613550
Nephronophthisis 12 AR 613820
Nephronophthisis 13 AR 614377
Nephronophthisis 14 AR 614844
Nephronophthisis 15 AR 614845
Nephronophthisis 16 AR 615382
Nephronophthisis 18 AR 615862
Nephronophthisis 19 AR 616217
Nephronophthisis 4 AR 606966
Nephronophthisis 7 AR 611498
Nephronophthisis 9 AR 613824
Oral-Facial-Digital Syndrome XL 311200
Orofaciodigital Syndrome XIV AR 615948
Orofaciodigital Syndrome XVI AR 617563
Polycystic Kidney Disease 2 AD 613095
Polycystic Kidney Disease, Infantile Type AR 263200
Renal Dysplasia And Retinal Aplasia AR 266900
Retinitis Pigmentosa 71 AR 616394
Senior-Loken Syndrome 5 AR 609254
Senior-Loken Syndrome 7 AR 613615
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly AR 615630
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly AR 616300
Short-rib thoracic dysplasia 14 with polydactyly AR 616546
Short-Rib Thoracic Dysplasia 5 with or without Polydactyly AR 614376
Spermatogenic failure 18 AR 617576
Spermatogenic failure 27 AR 617965
Transposition Of The Great Arteries, Dextro-Looped 3 AD 613854
Ventricular Septal Defect 3 AD 614432

Related Tests

Name
PGxome®
Bardet-Biedl Syndrome (BBS) Panel
Joubert and Meckel-Gruber Syndromes Panel
Nephronophthisis and Senior-Loken Syndrome Panel

Citations

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

loading Loading... ×

ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Total Price: $
×
Copy Text to Clipboard
×