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Ambiguous Genitalia Sequencing Panel with CNV Detection

  • Summary and Pricing
  • Clinical Features and Genetics
  • Citations
  • Methods
  • Ordering/Specimens
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TEST METHODS

Exome with CNV

Test Code Test Copy GenesCPT Code Copy CPT Codes
6903 AKR1C4 81479,81479 Add to Order
ANOS1 81406,81479
AR 81405,81479
ARX 81403,81403
ATRX 81479,81479
B3GLCT 81479,81479
BCOR 81479,81479
BMP4 81479,81479
CCNQ 81479,81479
CDKN1C 81479,81479
CEP41 81479,81479
CHD4 81479,81479
CHD7 81407,81479
CREBBP 81407,81406
CYB5A 81479,81479
CYP11A1 81479,81479
CYP11B1 81405,81479
CYP17A1 81405,81479
CYP19A1 81479,81479
DHCR24 81479,81479
DHCR7 81405,81479
DHH 81479,81479
DMRT1 81479,81479
DNMT3B 81479,81479
DYNC2H1 81479,81479
ESCO2 81479,81479
FAT4 81479,81479
FEZF1 81479,81479
FGFR1 81405,81479
FIG4 81406,81479
FRAS1 81479,81479
FREM2 81479,81479
GATA4 81479,81479
GNRHR 81405,81479
GRIP1 81479,81479
HCCS 81479,81479
HOXA13 81479,81479
HSD17B3 81479,81479
HSD17B4 81479,81479
HSD3B2 81479,81479
ICK 81479,81479
IL17RD 81479,81479
IRF6 81479,81479
KISS1R 81479,81479
LHCGR 81406,81479
LMNA 81406,81479
MAP3K1 81479,81479
MKKS 81479,81479
MKS1 81479,81479
NEK1 81479,81479
NR0B1 81404,81479
NR5A1 81479,81479
NSMF 81479,81479
OPHN1 81479,81479
POR 81479,81479
PROKR2 81479,81479
PTPN11 81406,81479
RIPK4 81479,81479
ROR2 81479,81479
RSPO1 81479,81479
SALL1 81479,81479
SEMA3A 81479,81479
SETBP1 81479,81479
SOS1 81406,81479
SOX10 81479,81479
SOX2 81479,81479
SOX3 81479,81479
SOX9 81479,81479
SPECC1L 81479,81479
SRD5A2 81479,81479
SRY 81400,81479
STAR 81479,81479
TBX15 81479,81479
TOE1 81479,81479
TRAIP 81479,81479
TSPYL1 81479,81479
TWIST2 81479,81479
UBR1 81479,81479
WDR60 81479,81479
WNT4 81479,81479
WNT5A 81479,81479
WNT7A 81479,81479
WT1 81405,81479
WWOX 81479,81479
ZFPM2 81479,81479
Full Panel Price* $990
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
6903 Genes x (85) $990 81400, 81403(x2), 81404, 81405(x7), 81406(x7), 81407(x2), 81479(x150) Add to Order
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.

Targeted Testing

For ordering sequencing of targeted known variants, please proceed to our Targeted Variants landing page.

Turnaround Time

The great majority of tests are completed within 26 days.

Clinical Sensitivity

This multi-gene panel analyzes genes involved in both syndromic and non-syndromic Disorders of Sex Development (DSD). 64 genes in this panel account for approximately 35% of cases of 46,XY DSD (Baxter et al. 2015. PubMed ID: 25383892). In one cohort, clinically significant CNVs were detected in 25% of patients with ambiguous genitalia (Tannour-Louet et al. 2010. PubMed ID: 21048976). So far, gross deletions or duplications have been reported in SOX3, LHCGR, SRY, NR0B1, DMRT1, NR5A1, GATA4, WT1, and WNT4.

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Clinical Features

Ambiguous genitalia is a rare condition in which external genitalia do not appear to have the typical appearance of either male or female. Ambiguous genitalia is a subset of disorder of sex development (DSD). Sex development is a complex process under genetic control directing the initially bi-potential gonad to develop into either a testis or an ovary (sex determination), and the consequent differentiation of internal ducts and external genitalia (sex differentiation) (Laino et al. 2014. PubMed ID: 25248670). Disruption of either determination or differentiation can lead to DSD which are congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex (Hughes et al. 2006. PubMed ID: 18947601). DSD, ranging in severity from genital abnormalities to complete sex reversal, includes congenital development of ambiguous genitalia, disjunction between the internal and external sex anatomy, incomplete development of sex anatomy, sex chromosome anomalies (Turner Syndrome; Klinefelter Syndrome) and disorders of gonadal development (Park et al. 2006).

Three subtypes of DSD are generally recognized: Sex Chromosome DSD, 46,XX DSD and 46,XY DSD. 46,XY DSD result from incomplete intrauterine virilization and are characterized by ambiguous or ‘female’ external genitalia, variable gonadal dysgenesis, hypospadias, oligospermia, azoospermia, and müllerian structures that range from absence to presence of a uterus and fallopian tubes (Mohnach et al. 2016. PubMed ID: 20301714). 46,XX DSD relate to excess androgen and are characterized by ambiguous or ‘male’ external genitalia, müllerian aplasia, hyperandrogenism and primary amenorrhea (Knarston et al. 2016. PubMed ID: 26846580).

Genetics

DSD are complex conditions caused by a wide range of genetic anomalies. They can be inherited in an autosomal dominant, autosomal recessive, X-linked, or Y-linked manner depending on the gene involved. To date, more than 60 genes have been showed to be involved in DSD (Baxter et al. 2015. PubMed ID: 25383892). These genes are implicated in sex determination, sex differentiation and causes of hypogonadism. The most commonly involved genes in DSD include SRY, NR5A1, MAP3K1, DHH, NR0B1 (DAX1), WNT4, CYP21A2, and SOX9. See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Copy number variants (CNVs) are also a common genetic cause of ambiguous genitalia. Clinically significant CNVs were detected in 25% of patients with ambiguous genitalia (Tannour-Louet et al. 2010. PubMed ID: 21048976). For this reason, genetic testing to detect large cytogenetic events and CNVs is recommended for patients with ambiguous genitalia. Our CNV analysis enables these large cytogenetic abnormalities as well as some exon level CNVs to be identified from NGS data.

Testing Strategy

For this Next Generation Sequencing (NGS) test, sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization kit, followed by massively parallel sequencing of the captured DNA fragments.

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

This panel typically provides ≥98% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. 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
Candidates for this test are individuals with symptoms consistent with disorders of sex development especially ambiguous or abnormal genitalia.

Diseases

Name Inheritance OMIM ID
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of AR 201810
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency AR 264600
46, XX sex reversal 4 AD 617480
46,XX Sex Reversal, Type 1 400045
46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 607080
46,XY Sex Reversal 8 AR 614279
46,XY Sex Reversal, Type 1 400044
46,XY Sex Reversal, Type 2 XL 300018
46,XY Sex Reversal, Type 3 AD 612965
46,XY Sex Reversal, Type 6 AD 613762
46,XY Sex Reversal, Type 7 AR 233420
46XY Sex Reversal 9 AD 616067
?Polymicrogyria, bilateral temporooccipital AR 612691
Ablepharon-macrostomia syndrome AD 200110
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency AR 202010
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 613743
Alpha-Thalassemia Myelodysplasia Syndrome 300448
Amyotrophic Lateral Sclerosis Type 11 AD 612577
Amyotrophic lateral sclerosis, susceptibility to, 24 617892
Androgen Resistance Syndrome XL 300068
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis AR 201750
Aromatase Deficiency 613546
ATR-X Syndrome XL 301040
Atrial Septal Defect 2 AD 607941
Atrioventricular Septal Defect 4 AD 614430
Barber-Say Syndrome AD 209885
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 6 AR 605231
Beckwith-Wiedemann Syndrome AD 130650
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy AD 181350
Brachydactyly, Type B1 AD 113000
Bulbo-Spinal Atrophy X-Linked XL 313200
Camptomelic Dysplasia AD 114290
Central Precocious Puberty AD 176400
Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency AR 242860
Charcot-Marie-Tooth Disease Type 2B1 AR 605588
Charcot-Marie-Tooth Disease, Type 4J AR 611228
CHARGE Association AD 214800
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency AR 201710
Cousin Syndrome AR 260660
D-Bifunctional Protein Deficiency AR 261515
Deficiency Of Steroid 17-Alpha-Monooxygenase AR 202110
Desmosterolosis AR 602398
Diaphragmatic Hernia 3 610187
Dilated Cardiomyopathy 1A AD 115200
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency AR 613571
Drash Syndrome AD 194080
Emery-Dreifuss muscular dystrophy 3, AR AR 616516
Encephalocraniocutaneous lipomatosis 613001
Endocrine-Cerebroosteodysplasia AR 612651
Epilepsy, juvenile myoclonic, susceptibility to, 10 AD 617924
Epileptic encephalopathy, early infantile, 1 XL 308350
Epileptic Encephalopathy, Early Infantile, 28 AR 616211
Esophageal Cancer AR 133239
Fallot Tetralogy AD 187500
Familial Gynecomastia, Due To Increased Aromatase Activity AD 139300
Focal facial dermal dysplasia 3, Setleis type AR 227260
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Fraser Syndrome 3 AR 617667
Frasier Syndrome AD 136680
Fuhrmann Syndrome AR 228930
Glucocorticoid-Remediable Aldosteronism AD 103900
Gonadotropin-Independent Familial Sexual Precocity 176410
Hand Foot Uterus Syndrome AD 140000
Hartsfield syndrome AD 615465
Heart-Hand Syndrome, Slovenian Type AD 610140
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 AR 616006
Hereditary Gingival Fibromatosis AD 135300
Hutchinson-Gilford Syndrome AR, AD 176670
Hypogonadotropic Hypogonadism 16 with or without Anosmia AD 614897
Hypogonadotropic Hypogonadism 18 with or without Anosmia AR, AD 615267
Hypogonadotropic Hypogonadism 22, with or without Anosmia AR 616030
Hypogonadotropic Hypogonadism 7 with or without Anosmia AR 146110
Hypogonadotropic Hypogonadism 8 with or without Anosmia AR 614837
Hypogonadotropic Hypogonadism 9 with or without Anosmia AD 614838
Hypospadias 1, X-Linked XL 300633
IMAGE Syndrome AD 614732
Isolated X-Linked Adrenal Hypoplasia Congenita XL 300200
Jackson-Weiss Syndrome AD 123150
Johanson-Blizzard Syndrome AR 243800
Joubert syndrome 15 AR 614464
Joubert Syndrome 28 AR 617121
Juvenile Myelomonocytic Leukemia AD 607785
Kallmann Syndrome 1 XL 308700
Kallmann Syndrome 2 AD 147950
Kallmann Syndrome 3 AD 244200
Kallmann Syndrome 5 AD 612370
LEOPARD Syndrome AD 151100
Leydig Cell Hypoplasia, Type I AR 238320
Limb-Girdle Muscular Dystrophy, Type 1B AD 159001
Lipodystrophy, Familial Partial, Type 2 AD 151660
Malignant Mesothelioma AD 156240
Malouf Syndrome AD 212112
Mandibuloacral Dysplasia With Type A Lipodystrophy AR 248370
Mckusick Kaufman Syndrome AR 236700
Meacham Syndrome AD 608978
Meckel Syndrome 1 AR 249000
Mental Retardation, Autosomal Dominant 29 AD 616078
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related XL 300419
Mental Retardation, X-Linked, With Panhypopituitarism 300123
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 XL 309580
Metachondromatosis AD 156250
Methemoglobinemia and Ambiguous Genitalia AR 250790
Microphthalmia Syndromic 3 AD 206900
Microphthalmia Syndromic 6 AD 607932
Microphthalmia Syndromic 7 XL 309801
Mullerian Aplasia And Hyperandrogenism AD 158330
Muscular Dystrophy, Congenital, LMNA-Related AD 613205
Nephrotic syndrome, type 4 AD 256370
Noonan Syndrome 1 AD 163950
Noonan Syndrome 4 AD 610733
Oculofaciocardiodental Syndrome XL 300166
Oculomaxillofacial Dysostosis AD 600251
Opitz GBBB syndrome, type II AD 145410
Orofacial Cleft 11 AD 600625
Orofacial Cleft 6, Susceptibility To 608864
Osteoglophonic Dysplasia AD 166250
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal AR 610644
Panhypopituitarism X-Linked XL 312000
Partington X-Linked Mental Retardation Syndrome XL 309510
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease AD 609136
Perrault Syndrome AR 233400
Peters Plus Syndrome AR 261540
Pfeiffer Syndrome AD 101600
Pontocerebellar Hypoplasia Type 7 AR 614969
Popliteal Pterygium Syndrome AD 119500
Popliteal pterygium syndrome 2, lethal type AR 263650
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias AD 176305
Premature Ovarian Failure 7 AD 612964
Prostate Cancer AD 176807
Proud Levine Carpenter Syndrome XL 300004
Reifenstein Syndrome XL 312300
Restrictive Dermopathy, Lethal AR 275210
Roberts Syndrome AR 268300
Roberts-SC Phocomelia Syndrome AR 269000
Robinow Syndrome AD 180700
Robinow Syndrome, Autosomal Recessive AR 268310
Rubinstein-Taybi Syndrome AD 180849
Schinzel-Giedion Midface Retraction Syndrome AD 269150
Seckel Syndrome 9 AR 616777
Serkal Syndrome AR 611812
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly AR 613091
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly AR 263520
Short-Rib Thoracic Dysplasia 8 with or without Polydactyly AR 615503
Sifrim-Hitz-Weiss Syndrome AD 617159
Smith-Lemli-Opitz Syndrome AR 270400
Spermatogenic Failure 8 AD 613957
Spinocerebellar ataxia, autosomal recessive 12 AR 614322
STAR Syndrome XL 300707
Sudden Infant Death With Dysgenesis Of The Testes Syndrome AR 608800
Testicular Anomalies with or without Congenital Heart Disease AD 615542
Testosterone 17-Beta-Dehydrogenase Deficiency AR 264300
Townes-Brocks Syndrome AD 107480
Trigonocephaly, Nonsyndromic AD 190440
Ulna And Fibula Absence Of With Severe Limb Deficiency AR 276820
Van Der Woude Syndrome AD 119300
Van Maldergem Syndrome 2 AR 615546
Ventricular Septal Defect 1 AD 614429
Waardenburg Syndrome, Type 2E AD 611584
Waardenburg Syndrome, Type 4C AD 613266
Wilms' Tumor AD 194070
X-Linked Lissencephaly 2 XL 300215
X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance XL 300486
Yunis-Varon Syndrome AR 216340

CONTACTS

Genetic Counselors
Geneticist
Citations
  • Baxter et al. 2015. PubMed ID: 25383892
  • Hughes et al. 2006. PubMed ID: 18947601
  • Knarston et al. 2016. PubMed ID: 26846580
  • Laino et al. 2014. PubMed ID: 25248670
  • Mohnach et al. 2016. PubMed ID: 20301714
  • Park et al. 2006. Consortium on the Management of Disorders of Sex Development.
  • Tannour-Louet et al. 2010. PubMed ID: 21048976
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TEST METHODS

Exome Sequencing with CNV Detection

Test Procedure

For the PGxome we use Next Generation Sequencing (NGS) technologies to cover the coding regions of targeted genes plus ~10 bases of non-coding DNA flanking each exon. As required, genomic DNA is extracted from patient specimens. Patient DNA corresponding to these regions is captured using Agilent Clinical Research Exome hybridization probes. Captured DNA is sequenced on the NovaSeq 6000 using 2x150 bp paired-end reads (Illumina, San Diego, CA, USA). The following quality control metrics are generally achieved: >97% of target bases are covered at >20x, and mean coverage of target bases >120x. Data analysis and interpretation is performed by the internally developed software Titanium-Exome. In brief, the output data from the NovaSeq 6000 is converted to fastqs by Illumina Bcl2Fastq, and mapped by BWA. Variant calls are made by the GATK Haplotype caller and annotated using in house software and SnpEff. Variants are filtered and annotated using VarSeq (www.goldenhelix.com).

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

Analytical Validity

NextGen Sequencing: As of March 2016, 6.36 Mb of sequence (83 genes, 1557 exons) generated in our lab was compared between Sanger and NextGen methodologies. We detected no differences between the two methods. The comparison involved 6400 total sequence variants (differences from the reference sequences). Of these, 6144 were nucleotide substitutions and 256 were insertions or deletions. About 65% of the variants were heterozygous and 35% homozygous. The insertions and deletions ranged in length from 1 to over 100 nucleotides.

In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed. The validation included insertions and deletions of lengths between 1 and 100 nucleotides. Insertions tested in silico: 2200 between 1 and 5 nucleotides, 625 between 6 and 10 nucleotides, 29 between 11 and 20 nucleotides, 25 between 21 and 49 nucleotides, and 23 at or greater than 50 nucleotides, with the largest at 98 nucleotides. All insertions were detected. Deletions tested in silico: 1813 between 1 and 5 nucleotides, 97 between 6 and 10 nucleotides, 32 between 11 and 20 nucleotides, 20 between 21 and 49 nucleotides, and 39 at or greater than 50 nucleotides, with the largest at 96 nucleotides. All deletions less than 50 nucleotides in length were detected, 13 greater than 50 nucleotides in length were missed. Our standard NextGen sequence variant calling algorithms are generally not capable of detecting insertions (duplications) or heterozygous deletions greater than 100 nucleotides. Large homozygous deletions appear to be detectable.

Copy Number Variant Analysis: The PGxome test detects most larger deletions and duplications including intragenic CNVs and large cytogenetic events; however aberrations in a small percentage of regions may not be accurately detected due to sequence paralogy (e.g., pseudogenes, segmental duplications), sequence properties, deletion/duplication size (e.g., 1-3 exons vs. 4 or more exons), and inadequate coverage. In general, sensitivity for single, double, or triple exon CNVs is ~70% and for CNVs of four exon size or larger is >95%, but may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region.

Analytical Limitations

Interpretation of the test results is limited by the information that is currently available. Better interpretation should be possible in the future as more data and knowledge about human genetics and this specific disorder are accumulated.

When sequencing does not reveal any heterozygous differences from the reference sequence, we cannot be certain that we were able to detect both patient alleles.

For technical reasons, the PGxome test is not 100% sensitive. Some exons cannot be efficiently captured, and some genes cannot be accurately sequenced because of the presence of multiple copies in the genome. Therefore, a small fraction of sequence variants will not be detected.

We sequence coding exons for most given transcripts, plus ~10 bp of flanking non-coding DNA for each exon. Unless specifically indicated, test reports contain no information about other portions of the gene, such as regulatory domains, deep intronic regions, uncharacterized alternative exons, chromosomal rearrangements, repeat expansions, epigenetic effects, and mitochondrial genome variants.

In most cases, we are unable to determine the phase of sequence variants. In particular, when we find two likely causative mutations for recessive disorders, we cannot be certain that the mutations are on different alleles.

Our ability to detect minor sequence variants due to somatic mosaicism is limited. Sequence variants that are present in less than 50% of the patient's nucleated cells may not be detected.

Runs of mononucleotide repeats (eg (A)n or (T)n) with n >8 in the reference sequence are generally not analyzed because of strand slippage during amplification.

Unless otherwise indicated, DNA sequence data is obtained from a specific cell-type (usually leukocytes if taken from whole blood). Test reports contain no information about the DNA sequence in other cell-types.

We cannot be certain that the reference sequences are correct.

Balanced translocations or inversions are only rarely detected.

Certain types of sex chromosome aneuploidy may not be detected.  

Our ability to detect CNVs due to somatic mosaicism is limited.

We have confidence in our ability to track a specimen once it has been received by PreventionGenetics. However, we take no responsibility for any specimen labeling errors that occur before the sample arrives at PreventionGenetics.

A negative finding does not rule out a genetic diagnosis.

Genetic counseling to help to explain test results to the patients and to discuss reproductive options is recommended.

Order Kits

Ordering Options


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.

SPECIMEN TYPES
WHOLE BLOOD

(Delivery accepted Monday - Saturday)

  • Collect 3 ml -5 ml (5 ml preferred) of whole blood in EDTA (purple top tube) or ACD (yellow top tube). For Test #500-DNA Banking only, collect 10 ml -20 ml of whole blood.
  • For small babies, we require a minimum of 1 ml of blood.
  • Only one blood tube is required for multiple tests.
  • Ship blood tubes at room temperature in an insulated container. Do not freeze blood.
  • During hot weather, include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube.
  • In cold weather, include an unfrozen ice pack in the shipping container as insulation.
  • At room temperature, blood specimen is stable for up to 48 hours.
  • If refrigerated, blood specimen is stable for up to one week.
  • Label the tube with the patient name, date of birth and/or ID number.

DNA

(Delivery accepted Monday - Saturday)

  • Send in screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml for NGS and Sanger tests and at least 5 µg of purified DNA at a concentration of at least 100 µg/ml for gene-centric aCGH, MLPA, and CMA tests, minimum 2 µg for limited specimens.
  • For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible.
  • DNA may be shipped at room temperature.
  • Label the tube with the composition of the solute, DNA concentration as well as the patient’s name, date of birth, and/or ID number.
  • We only accept genomic DNA for testing. We do NOT accept products of whole genome amplification reactions or other amplification reactions.

CELL CULTURE

(Delivery preferred Monday - Thursday)

  • PreventionGenetics should be notified in advance of arrival of a cell culture.
  • Culture and send at least two T25 flasks of confluent cells.
  • Some panels may require additional flasks (dependent on size of genes, amount of Sanger sequencing required, etc.). Multiple test requests may also require additional flasks. Please contact us for details.
  • Send specimens in insulated, shatterproof container overnight.
  • Cell cultures may be shipped at room temperature or refrigerated.
  • Label the flasks with the patient name, date of birth, and/or ID number.
  • We strongly recommend maintaining a local back-up culture. We do not culture cells.
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